Related gene-specific medical variations for Gene (Select 399512) - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Links from Gene

Items: 1 to 100 of 151

<< First< Prev

Page of 2

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3013416	NM_016492.5(RANGRF):c.207G>A (p.Glu69=)	RANGRF, SLC25A35 (R69K)	Single nucleotide variant (synonymous variant +4 more)	Cardiac arrhythmia	GLikely benign
Select item 3008964	NM_016492.5(RANGRF):c.484C>T (p.Pro162Ser)	RANGRF, SLC25A35 (P162S +1 more)	Single nucleotide variant (3 prime UTR variant +3 more)	Cardiac arrhythmia	GUncertain significance
Select item 2999238	NM_016492.5(RANGRF):c.396C>T (p.Pro132=)	RANGRF, SLC25A35 (P162S)	Single nucleotide variant (synonymous variant +4 more)	Cardiac arrhythmia	GLikely benign
Select item 2996582	NM_016492.5(RANGRF):c.534C>G (p.His178Gln)	SLC25A35, RANGRF (H178Q +2 more)	Single nucleotide variant (3 prime UTR variant +2 more)	Cardiac arrhythmia	GUncertain significance
Select item 2993121	NM_016492.5(RANGRF):c.177G>A (p.Arg59=)	SLC25A35, RANGRF	Single nucleotide variant (synonymous variant +3 more)	Cardiac arrhythmia	GLikely benign
Select item 2977878	NM_016492.5(RANGRF):c.301G>A (p.Glu101Lys)	LOC130060243, RANGRF +1 more (E100K +1 more)	Single nucleotide variant (missense variant +3 more)	Cardiac arrhythmia	GUncertain significance
Select item 2965903	NM_016492.5(RANGRF):c.356C>A (p.Ala119Glu)	RANGRF, SLC25A35 (A119E +2 more)	Single nucleotide variant (missense variant +3 more)	Cardiac arrhythmia	GUncertain significance
Select item 2914343	NM_016492.5(RANGRF):c.12G>A (p.Thr4=)	RANGRF, SLC25A35	Single nucleotide variant (synonymous variant +3 more)	Cardiac arrhythmia	GLikely benign
Select item 2907131	NM_016492.5(RANGRF):c.5A>G (p.Glu2Gly)	RANGRF, SLC25A35 (E2G)	Single nucleotide variant (missense variant +3 more)	Cardiac arrhythmia	GUncertain significance
Select item 2887158	NM_016492.5(RANGRF):c.351+6G>A	RANGRF, SLC25A35	Single nucleotide variant (synonymous variant +3 more)	Cardiac arrhythmia	GUncertain significance
Select item 2871304	NM_016492.5(RANGRF):c.523C>G (p.Leu175Val)	RANGRF, SLC25A35 (L174V +2 more)	Single nucleotide variant (3 prime UTR variant +2 more)	Cardiac arrhythmia	GUncertain significance
Select item 2841770	NM_016492.5(RANGRF):c.476C>T (p.Ser159Leu)	RANGRF, SLC25A35 (S159L +1 more)	Single nucleotide variant (3 prime UTR variant +2 more)	Cardiac arrhythmia	GUncertain significance
Select item 2818802	NM_016492.5(RANGRF):c.494T>C (p.Leu165Pro)	RANGRF, SLC25A35 (L165P +2 more)	Single nucleotide variant (3 prime UTR variant +2 more)	Cardiac arrhythmia	GUncertain significance
Select item 2808825	NM_016492.5(RANGRF):c.167C>A (p.Ala56Asp)	RANGRF, SLC25A35 (A56D)	Single nucleotide variant (missense variant +3 more)	Cardiac arrhythmia	GUncertain significance
Select item 2798670	NM_016492.5(RANGRF):c.390G>A (p.Arg130=)	RANGRF, SLC25A35 (A160T)	Single nucleotide variant (synonymous variant +4 more)	Cardiac arrhythmia	GLikely benign
Select item 2788278	NM_016492.5(RANGRF):c.176G>T (p.Arg59Leu)	RANGRF, SLC25A35 (R59L)	Single nucleotide variant (missense variant +3 more)	Cardiac arrhythmia	GUncertain significance
Select item 2741254	NM_016492.5(RANGRF):c.418C>G (p.Leu140Val)	RANGRF, SLC25A35 (L139V +1 more)	Single nucleotide variant (missense variant +3 more)	Cardiac arrhythmia	GUncertain significance
Select item 2738711	NM_016492.5(RANGRF):c.57C>T (p.Pro19=)	RANGRF, SLC25A35	Single nucleotide variant (synonymous variant +3 more)	Cardiac arrhythmia	GLikely benign
Select item 2721486	NM_016492.5(RANGRF):c.173T>A (p.Val58Glu)	RANGRF, SLC25A35 (V58E)	Single nucleotide variant (missense variant +3 more)	Cardiac arrhythmia	GUncertain significance
Select item 2716249	NM_016492.5(RANGRF):c.194+18G>A	RANGRF, SLC25A35	Single nucleotide variant (3 prime UTR variant +2 more)	Cardiac arrhythmia	GLikely benign
Select item 2715610	NM_016492.5(RANGRF):c.238G>A (p.Val80Ile)	RANGRF, SLC25A35 (V80I)	Single nucleotide variant (missense variant +4 more)	Cardiac arrhythmia	GUncertain significance
Select item 2715432	NM_016492.5(RANGRF):c.552T>C (p.Gly184=)	SLC25A35, RANGRF (T263A)	Single nucleotide variant (3 prime UTR variant +3 more)	Cardiac arrhythmia	GLikely benign
Select item 2713475	NM_016492.5(RANGRF):c.247G>A (p.Glu83Lys)	RANGRF, SLC25A35 (E83K +1 more)	Single nucleotide variant (missense variant +4 more)	Cardiac arrhythmia	GUncertain significance
Select item 2713459	NM_016492.5(RANGRF):c.202T>A (p.Phe68Ile)	RANGRF, SLC25A35 (F68I)	Single nucleotide variant (missense variant +4 more)	Cardiac arrhythmia	GUncertain significance
Select item 2543175	NM_016492.5(RANGRF):c.493C>A (p.Leu165Met)	RANGRF, SLC25A35 (L164M +2 more)	Single nucleotide variant (3 prime UTR variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2537034	NM_016492.5(RANGRF):c.220G>T (p.Val74Leu)	RANGRF, SLC25A35 (V74L)	Single nucleotide variant (missense variant +4 more)	Inborn genetic diseases	GUncertain significance
Select item 2537033	NM_016492.5(RANGRF):c.201C>G (p.His67Gln)	RANGRF, SLC25A35 (T67S +1 more)	Single nucleotide variant (missense variant +3 more)	Inborn genetic diseases	GUncertain significance
Select item 2426306	NC_000017.10:g.(?_8192107)_(8193254_?)dup	RANGRF, SLC25A35	Duplication	Cardiac arrhythmia	GUncertain significance
Select item 2275397	NM_016492.5(RANGRF):c.134A>G (p.Gln45Arg)	LOC130060241, RANGRF +1 more (Q45R)	Single nucleotide variant (missense variant +3 more)	Cardiac arrhythmia +1 more	GUncertain significance
Select item 2273252	NM_016492.5(RANGRF):c.78C>G (p.Ser26Arg)	LOC130060241, RANGRF +1 more (S26R)	Single nucleotide variant (missense variant +3 more)	Inborn genetic diseases	GUncertain significance
Select item 2255595	NM_016492.5(RANGRF):c.167C>T (p.Ala56Val)	RANGRF, SLC25A35 (A56V)	Single nucleotide variant (missense variant +3 more)	Cardiac arrhythmia +1 more	GUncertain significance
Select item 2192731	NM_016492.5(RANGRF):c.438-13C>A	RANGRF, SLC25A35	Single nucleotide variant (3 prime UTR variant +1 more)	Cardiac arrhythmia	GLikely benign
Select item 2188377	NM_016492.5(RANGRF):c.219C>T (p.Gly73=)	SLC25A35, RANGRF (A73V)	Single nucleotide variant (synonymous variant +4 more)	Cardiac arrhythmia	GLikely benign
Select item 2164767	NM_016492.5(RANGRF):c.77+18C>T	RANGRF, SLC25A35	Single nucleotide variant (3 prime UTR variant +2 more)	Cardiac arrhythmia	GLikely benign
Select item 2163812	NM_016492.5(RANGRF):c.21C>T (p.Cys7=)	SLC25A35, RANGRF	Single nucleotide variant (synonymous variant +3 more)	Cardiac arrhythmia	GLikely benign
Select item 2160939	NM_016492.5(RANGRF):c.77+14G>A	RANGRF, SLC25A35	Single nucleotide variant (3 prime UTR variant +2 more)	Cardiac arrhythmia	GLikely benign
Select item 2157756	NM_016492.5(RANGRF):c.190G>A (p.Ala64Thr)	RANGRF, SLC25A35 (A64T)	Single nucleotide variant (missense variant +4 more)	Cardiac arrhythmia	GUncertain significance
Select item 2153108	NM_016492.5(RANGRF):c.194+10T>C	RANGRF, SLC25A35	Single nucleotide variant (3 prime UTR variant +2 more)	Cardiac arrhythmia	GLikely benign
Select item 2146131	NM_016492.5(RANGRF):c.242A>G (p.His81Arg)	RANGRF, SLC25A35 (H81R +1 more)	Single nucleotide variant (missense variant +3 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2142264	NM_016492.5(RANGRF):c.67A>G (p.Ile23Val)	RANGRF, SLC25A35 (I23V)	Single nucleotide variant (missense variant +3 more)	Cardiac arrhythmia	GUncertain significance
Select item 2115057	NM_016492.5(RANGRF):c.157_158delinsTT (p.Glu53Leu)	RANGRF, SLC25A35 +1 more (E53L)	Indel (missense variant +3 more)	Cardiac arrhythmia	GUncertain significance
Select item 2108057	NM_016492.5(RANGRF):c.129G>A (p.Thr43=)	LOC130060241, RANGRF +1 more	Single nucleotide variant (synonymous variant +3 more)	Cardiac arrhythmia	GLikely benign
Select item 2092901	NM_016492.5(RANGRF):c.92T>G (p.Val31Gly)	LOC130060241, RANGRF +1 more (V31G)	Single nucleotide variant (missense variant +3 more)	Cardiac arrhythmia	GUncertain significance
Select item 2088711	NM_016492.5(RANGRF):c.189T>G (p.Ala63=)	RANGRF, SLC25A35 (L63R)	Single nucleotide variant (synonymous variant +4 more)	Cardiac arrhythmia	GLikely benign
Select item 2066385	NM_016492.5(RANGRF):c.437+9G>T	RANGRF, SLC25A35	Single nucleotide variant (3 prime UTR variant +2 more)	Cardiac arrhythmia	GUncertain significance
Select item 2059284	NM_016492.5(RANGRF):c.194+15C>T	RANGRF, SLC25A35	Single nucleotide variant (3 prime UTR variant +2 more)	Cardiac arrhythmia	GLikely benign
Select item 2047768	NM_016492.5(RANGRF):c.179G>A (p.Gly60Asp)	SLC25A35, RANGRF (G60D)	Single nucleotide variant (missense variant +3 more)	Cardiac arrhythmia	GUncertain significance
Select item 2018871	NM_016492.5(RANGRF):c.276C>T (p.Asn92=)	LOC130060243, RANGRF +1 more (T92I)	Single nucleotide variant (synonymous variant +4 more)	Cardiac arrhythmia	GLikely benign
Select item 2006920	NM_016492.5(RANGRF):c.433C>A (p.Pro145Thr)	RANGRF, SLC25A35 (P144T +1 more)	Single nucleotide variant (missense variant +3 more)	Cardiac arrhythmia	GUncertain significance
Select item 1987123	NM_016492.5(RANGRF):c.123C>T (p.Pro41=)	LOC130060241, RANGRF +1 more	Single nucleotide variant (synonymous variant +3 more)	Cardiac arrhythmia	GLikely benign
Select item 1975565	NM_016492.5(RANGRF):c.194+6G>T	RANGRF, SLC25A35	Single nucleotide variant (3 prime UTR variant +2 more)	Cardiac arrhythmia	GUncertain significance
Select item 1956585	NM_016492.5(RANGRF):c.351+4_351+19del	RANGRF, SLC25A35	Deletion (nonsense +4 more)	Cardiac arrhythmia	GUncertain significance
Select item 1947101	NM_016492.5(RANGRF):c.20G>T (p.Cys7Phe)	RANGRF, SLC25A35 (C7F)	Single nucleotide variant (missense variant +3 more)	Cardiac arrhythmia	GUncertain significance
Select item 1916026	NM_016492.5(RANGRF):c.162_163delinsAT (p.Gln55Ter)	LOC130060241, RANGRF +1 more (Q55*)	Indel (nonsense +3 more)	Cardiac arrhythmia	GUncertain significance
Select item 1902794	NM_016492.5(RANGRF):c.78-16C>T	LOC130060241, RANGRF +1 more	Single nucleotide variant (3 prime UTR variant +2 more)	Cardiac arrhythmia	GLikely benign
Select item 1710728	NM_016492.5(RANGRF):c.-2C>T	RANGRF, SLC25A35	Single nucleotide variant (5 prime UTR variant +3 more)	not provided	GLikely benign
Select item 1677880	NM_016492.5(RANGRF):c.16_17del (p.Asp6fs)	RANGRF, SLC25A35 (D6fs)	Microsatellite (frameshift variant +3 more)	not provided +1 more	GUncertain significance
Select item 1649427	NM_016492.5(RANGRF):c.438-16G>C	RANGRF, SLC25A35	Single nucleotide variant (3 prime UTR variant +1 more)	Cardiac arrhythmia	GLikely benign
Select item 1612979	NM_016492.5(RANGRF):c.195-15G>A	RANGRF, SLC25A35	Single nucleotide variant (3 prime UTR variant +2 more)	Cardiac arrhythmia	GLikely benign
Select item 1608663	NM_016492.5(RANGRF):c.387G>A (p.Leu129=)	RANGRF, SLC25A35 (E159K)	Single nucleotide variant (synonymous variant +4 more)	Cardiac arrhythmia	GLikely benign
Select item 1589164	NM_016492.5(RANGRF):c.195-4C>T	SLC25A35, RANGRF	Single nucleotide variant (3 prime UTR variant +2 more)	Cardiac arrhythmia	GLikely benign
Select item 1588604	NM_016492.5(RANGRF):c.194+14C>T	SLC25A35, RANGRF	Single nucleotide variant (3 prime UTR variant +2 more)	Cardiac arrhythmia	GLikely benign
Select item 1585384	NM_016492.5(RANGRF):c.186G>T (p.Ala62=)	RANGRF, SLC25A35 (R62L)	Single nucleotide variant (synonymous variant +4 more)	Cardiac arrhythmia	GLikely benign
Select item 1570248	NM_016492.5(RANGRF):c.171C>T (p.His57=)	RANGRF, SLC25A35	Single nucleotide variant (synonymous variant +3 more)	Cardiac arrhythmia	GLikely benign
Select item 1561897	NM_016492.5(RANGRF):c.534C>T (p.His178=)	RANGRF, SLC25A35 (V269M)	Single nucleotide variant (3 prime UTR variant +3 more)	RANGRF-related condition +1 more	GLikely benign
Select item 1552831	NM_016492.5(RANGRF):c.194+9A>C	RANGRF, SLC25A35	Single nucleotide variant (3 prime UTR variant +2 more)	Cardiac arrhythmia	GLikely benign
Select item 1542554	NM_016492.5(RANGRF):c.543C>T (p.Asn181=)	RANGRF, SLC25A35 (V266I)	Single nucleotide variant (3 prime UTR variant +3 more)	Cardiac arrhythmia	GLikely benign
Select item 1539614	NM_016492.5(RANGRF):c.437+17G>A	RANGRF, SLC25A35	Single nucleotide variant (3 prime UTR variant +2 more)	Cardiac arrhythmia	GLikely benign
Select item 1539434	NM_016492.5(RANGRF):c.85C>A (p.Arg29=)	LOC130060241, RANGRF +1 more	Single nucleotide variant (synonymous variant +3 more)	Cardiac arrhythmia	GLikely benign
Select item 1539432	NM_016492.5(RANGRF):c.438-12C>T	RANGRF, SLC25A35	Single nucleotide variant (3 prime UTR variant +1 more)	Cardiac arrhythmia	GLikely benign
Select item 1522246	NM_016492.5(RANGRF):c.437delC (p.Pro147fs)	SLC25A35, RANGRF (P146fs +1 more)	Deletion (frameshift variant +3 more)	Cardiac arrhythmia	GUncertain significance
Select item 1507967	NM_016492.5(RANGRF):c.185C>G (p.Ala62Gly)	RANGRF, SLC25A35 (A62G +1 more)	Single nucleotide variant (missense variant +3 more)	Cardiac arrhythmia	GUncertain significance
Select item 1470827	NM_016492.5(RANGRF):c.358A>T (p.Lys120Ter)	RANGRF, SLC25A35 (K120* +2 more)	Single nucleotide variant (nonsense +4 more)	Cardiac arrhythmia	GUncertain significance
Select item 1459894	NM_016492.5(RANGRF):c.312C>T (p.Val104=)	LOC130060243, RANGRF +1 more	Single nucleotide variant (synonymous variant +3 more)	Cardiac arrhythmia	GLikely benign
Select item 1430927	NM_016492.5(RANGRF):c.59T>C (p.Met20Thr)	SLC25A35, RANGRF (M20T)	Single nucleotide variant (missense variant +3 more)	Cardiac arrhythmia	GUncertain significance
Select item 1427445	NM_016492.5(RANGRF):c.155T>C (p.Leu52Pro)	LOC130060241, RANGRF +1 more (L52P)	Single nucleotide variant (missense variant +3 more)	Cardiac arrhythmia	GUncertain significance
Select item 1425505	NM_016492.5(RANGRF):c.142del (p.Leu47_Ile48insTer)	LOC130060241, RANGRF +1 more	Deletion (nonsense +4 more)	Cardiac arrhythmia	GUncertain significance
Select item 1406584	NM_016492.5(RANGRF):c.2T>A (p.Met1Lys)	SLC25A35, RANGRF (M1K)	Single nucleotide variant (missense variant +4 more)	Cardiac arrhythmia	GUncertain significance
Select item 1404532	NM_016492.5(RANGRF):c.11C>G (p.Thr4Arg)	SLC25A35, RANGRF (T4R)	Single nucleotide variant (missense variant +3 more)	Cardiac arrhythmia	GUncertain significance
Select item 1403512	NM_016492.5(RANGRF):c.176G>C (p.Arg59Pro)	RANGRF, SLC25A35 (R59P)	Single nucleotide variant (missense variant +3 more)	Cardiac arrhythmia	GUncertain significance
Select item 1377877	NM_016492.5(RANGRF):c.35G>A (p.Gly12Asp)	RANGRF, SLC25A35 (G12D)	Single nucleotide variant (missense variant +3 more)	Cardiac arrhythmia	GUncertain significance
Select item 1372972	NM_016492.5(RANGRF):c.398A>G (p.Gln133Arg)	RANGRF, SLC25A35 (Q133R +1 more)	Single nucleotide variant (missense variant +4 more)	Cardiac arrhythmia	GUncertain significance
Select item 1369857	NM_016492.5(RANGRF):c.97G>T (p.Asp33Tyr)	RANGRF, SLC25A35 +1 more (D33Y)	Single nucleotide variant (missense variant +3 more)	Cardiac arrhythmia	GUncertain significance
Select item 1345585	NM_016492.5(RANGRF):c.256C>T (p.Gln86Ter)	RANGRF, SLC25A35 (Q86*)	Single nucleotide variant (nonsense +4 more)	Cardiac arrhythmia	GUncertain significance
Select item 1318360	NM_016492.5(RANGRF):c.195-86G>T	RANGRF, SLC25A35 +1 more	Single nucleotide variant (3 prime UTR variant +2 more)	not provided	GLikely benign
Select item 1318233	NM_201520.3(SLC25A35):c.*1236C>T	LOC130060240, RANGRF +1 more	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 1317732	NM_001320871.2(SLC25A35):c.*43-31TTGA[8]	LOC130060240, RANGRF +1 more	Microsatellite (3 prime UTR variant +2 more)	not provided	GLikely benign
Select item 1316068	NM_001320871.2(SLC25A35):c.*43-31TTGA[6]	RANGRF, SLC25A35 +1 more	Microsatellite (3 prime UTR variant +2 more)	not provided	GLikely benign
Select item 1292499	NM_016492.5(RANGRF):c.194+17C>G	RANGRF, SLC25A35	Single nucleotide variant (3 prime UTR variant +2 more)	not provided	GBenign
Select item 1156838	NM_016492.5(RANGRF):c.429T>C (p.Asn143=)	SLC25A35, RANGRF	Single nucleotide variant (intron variant +3 more)	Cardiac arrhythmia	GLikely benign
Select item 1151347	NM_016492.5(RANGRF):c.447C>T (p.Asn149=)	RANGRF, SLC25A35	Single nucleotide variant (3 prime UTR variant +2 more)	Cardiac arrhythmia	GLikely benign
Select item 1150353	NM_016492.5(RANGRF):c.513G>A (p.Leu171=)	RANGRF, SLC25A35 (Q276*)	Single nucleotide variant (3 prime UTR variant +3 more)	Cardiac arrhythmia	GLikely benign
Select item 1147208	NM_016492.5(RANGRF):c.465C>T (p.Pro155=)	SLC25A35, RANGRF	Single nucleotide variant (3 prime UTR variant +2 more)	Cardiac arrhythmia	GLikely benign
Select item 1144706	NM_016492.5(RANGRF):c.75A>T (p.Val25=)	RANGRF, SLC25A35	Single nucleotide variant (synonymous variant +3 more)	Cardiac arrhythmia	GLikely benign
Select item 1125876	NM_016492.5(RANGRF):c.351+7G>A	RANGRF, SLC25A35 (A120T)	Single nucleotide variant (missense variant +3 more)	Cardiac arrhythmia	GLikely benign
Select item 1111791	NM_016492.5(RANGRF):c.77+8G>A	RANGRF, SLC25A35	Single nucleotide variant (3 prime UTR variant +2 more)	Cardiac arrhythmia	GLikely benign
Select item 1110143	NM_016492.5(RANGRF):c.124G>T (p.Val42Leu)	LOC130060241, RANGRF +1 more (V42L)	Single nucleotide variant (missense variant +3 more)	RANGRF-related condition +1 more	GLikely benign
Select item 1110141	NM_016492.5(RANGRF):c.493C>T (p.Leu165=)	RANGRF, SLC25A35	Single nucleotide variant (3 prime UTR variant +2 more)	Cardiac arrhythmia	GLikely benign
Select item 1098936	NM_016492.5(RANGRF):c.194+8A>G	RANGRF, SLC25A35	Single nucleotide variant (3 prime UTR variant +2 more)	Cardiac arrhythmia	GLikely benign
Select item 1053924	NM_016492.5(RANGRF):c.250T>G (p.Ser84Ala)	RANGRF, SLC25A35 (S84A +1 more)	Single nucleotide variant (missense variant +3 more)	Cardiac arrhythmia	GUncertain significance

<< First< Prev

Page of 2