81857[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59116	GRCh38/hg38 19q13.33-13.43(chr19:47908540-58539965)x3	ZBTB45, ZFP28 +1081 more	Copy number gain	See cases	GPathogenic
Select item 59117	GRCh38/hg38 19q13.33-13.43(chr19:47929575-58572206)x3	LOC130064933, LOC130064934 +1093 more	Copy number gain	See cases	GPathogenic
Select item 1262877	NC_000019.10:g.49818253C>T	MED25	Single nucleotide variant	not provided	GBenign
Select item 1233628	NC_000019.10:g.49818255C>G	MED25	Single nucleotide variant	not provided	GBenign
Select item 138201	NM_030973.4(MED25):c.-12A>G	MED25	Single nucleotide variant (5 prime UTR variant)	not specified +2 more	GBenign
Select item 3063666	NM_030973.4(MED25):c.2T>G (p.Met1Arg)	MED25 (M1R)	Single nucleotide variant (missense variant +1 more)	Congenital cataract-microcephaly-nevus flammeus simplex-severe intellectual disability syndrome	GLikely pathogenic
Select item 476805	NM_030973.4(MED25):c.4G>C (p.Val2Leu)	MED25 (V2L)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2 +1 more	GUncertain significance
Select item 841790	NM_030973.4(MED25):c.13_36del (p.Glu6_Ser13del)	MED25	Deletion (inframe_deletion)	Charcot-Marie-Tooth disease type 2	GUncertain significance
Select item 1123617	NM_030973.4(MED25):c.9C>T (p.Pro3=)	MED25	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease type 2	GLikely benign
Select item 1093856	NM_030973.4(MED25):c.15C>T (p.Ser5=)	MED25	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease type 2	GLikely benign
Select item 1025612	NM_030973.4(MED25):c.16G>C (p.Glu6Gln)	MED25 (E6Q)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2	GUncertain significance
Select item 1372364	NM_030973.4(MED25):c.20G>T (p.Gly7Val)	MED25 (G7V)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2	GUncertain significance
Select item 966734	NM_030973.4(MED25):c.23C>T (p.Pro8Leu)	MED25 (P8L)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2	GUncertain significance
Select item 452222	NM_030973.4(MED25):c.23C>A (p.Pro8Gln)	MED25 (P8Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2099102	NM_030973.4(MED25):c.28C>T (p.Arg10Cys)	MED25 (R10C)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2	GUncertain significance
Select item 1398117	NM_030973.4(MED25):c.29G>T (p.Arg10Leu)	MED25 (R10L)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2	GUncertain significance
Select item 1950167	NM_030973.4(MED25):c.36G>C (p.Gly12=)	MED25	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease type 2	GLikely benign
Select item 2724160	NM_030973.4(MED25):c.48C>T (p.Ala16=)	MED25	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease type 2	GLikely benign
Select item 1905701	NM_030973.4(MED25):c.58T>A (p.Phe20Ile)	MED25 (F20I)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2	GUncertain significance
Select item 962985	NM_030973.4(MED25):c.61G>A (p.Val21Met)	MED25 (V21M)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2	GUncertain significance
Select item 697482	NM_030973.4(MED25):c.81C>T (p.Asn27=)	MED25	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease type 2	GLikely benign
Select item 2102604	NM_030973.4(MED25):c.87A>G (p.Gly29=)	MED25	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease type 2	GLikely benign
Select item 415890	NM_030973.4(MED25):c.93C>T (p.Tyr31=)	MED25	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease +3 more	GBenign/Likely benign
Select item 699950	NM_030973.4(MED25):c.96C>T (p.Phe32=)	MED25	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease type 2	GBenign
Select item 2179621	NM_030973.4(MED25):c.98A>G (p.Glu33Gly)	MED25 (E33G)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2	GUncertain significance
Select item 949948	NM_030973.4(MED25):c.102del (p.Leu35fs)	MED25 (L35fs)	Deletion (frameshift variant)	Charcot-Marie-Tooth disease type 2	GUncertain significance
Select item 1636643	NM_030973.4(MED25):c.102G>T (p.Gly34=)	MED25	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease type 2	GLikely benign
Select item 703440	NM_030973.4(MED25):c.102G>A (p.Gly34=)	MED25	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease type 2	GLikely benign
Select item 644714	NM_030973.4(MED25):c.107G>T (p.Arg36Leu)	MED25 (R36L)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2	GUncertain significance
Select item 476796	NM_030973.4(MED25):c.107G>A (p.Arg36His)	MED25 (R36H)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease +1 more	GUncertain significance
Select item 2200229	NM_030973.4(MED25):c.112C>T (p.His38Tyr)	MED25 (H38Y)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2	GUncertain significance
Select item 970836	NM_030973.4(MED25):c.112C>A (p.His38Asn)	MED25 (H38N)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2	GUncertain significance
Select item 1145029	NM_030973.4(MED25):c.114C>T (p.His38=)	MED25	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease type 2	GLikely benign
Select item 203445	NM_030973.4(MED25):c.116A>G (p.Tyr39Cys)	MED25 (Y39C)	Single nucleotide variant (missense variant)	Congenital cataract-microcephaly-nevus flammeus simplex-severe intellectual disability syndrome	GPathogenic
Select item 581510	NM_030973.4(MED25):c.117C>G (p.Tyr39Ter)	MED25 (Y39*)	Single nucleotide variant (nonsense)	Charcot-Marie-Tooth disease type 2	GUncertain significance
Select item 2904603	NM_030973.4(MED25):c.123C>T (p.Leu41=)	MED25	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease type 2	GLikely benign
Select item 2892170	NM_030973.4(MED25):c.123C>G (p.Leu41=)	MED25	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease type 2	GLikely benign
Select item 949019	NM_030973.4(MED25):c.124C>T (p.Pro42Ser)	MED25 (P42S)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2	GUncertain significance
Select item 916779	NM_030973.4(MED25):c.125C>T (p.Pro42Leu)	MED25 (P42L)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease	GUncertain significance
Select item 1502815	NM_030973.4(MED25):c.131T>G (p.Ile44Ser)	MED25 (I44S)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2	GUncertain significance
Select item 1092175	NM_030973.4(MED25):c.134+8C>T	MED25	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease type 2	GLikely benign
Select item 2005766	NM_030973.4(MED25):c.134+14C>T	MED25	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease type 2	GLikely benign
Select item 1907633	NM_030973.4(MED25):c.134+17C>T	MED25	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease type 2	GLikely benign
Select item 917057	NM_030973.4(MED25):c.134+19A>G	MED25	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease	GLikely benign
Select item 916782	NM_030973.4(MED25):c.134+20C>T	MED25	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease type 2 +1 more	GLikely benign
Select item 1987745	NM_030973.4(MED25):c.135-17A>G	MED25	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease type 2	GLikely benign
Select item 2797605	NM_030973.4(MED25):c.135-15T>C	MED25	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease type 2	GLikely benign
Select item 1571394	NM_030973.4(MED25):c.135-15T>G	MED25	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease type 2	GLikely benign
Select item 1592232	NM_030973.4(MED25):c.135-14T>C	MED25	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease type 2	GLikely benign
Select item 3018201	NM_030973.4(MED25):c.135-12C>G	MED25	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease type 2	GLikely benign
Select item 2749454	NM_030973.4(MED25):c.135-11T>C	MED25	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease type 2	GLikely benign
Select item 1136759	NM_030973.4(MED25):c.135-9C>T	MED25	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease type 2	GLikely benign
Select item 195385	NM_030973.4(MED25):c.135-6T>G	MED25	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease +4 more	GConflicting classifications of pathogenicity
Select item 1111325	NM_030973.4(MED25):c.135-5C>T	MED25	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease type 2	GLikely benign
Select item 1142581	NM_030973.4(MED25):c.135-4A>G	MED25	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease type 2	GLikely benign
Select item 1335358	NM_030973.4(MED25):c.135-3C>T	MED25	Single nucleotide variant (intron variant)	not provided +2 more	GUncertain significance
Select item 917360	NM_030973.4(MED25):c.135-1G>A	MED25	Single nucleotide variant (splice acceptor variant)	Charcot-Marie-Tooth disease	GLikely pathogenic
Select item 704731	NM_030973.4(MED25):c.138T>C (p.Tyr46=)	MED25	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease type 2	GLikely benign
Select item 1489117	NM_030973.4(MED25):c.140_144del (p.Phe47fs)	MED25 (F47fs)	Deletion (frameshift variant)	Charcot-Marie-Tooth disease type 2	GUncertain significance
Select item 2053676	NM_030973.4(MED25):c.145G>C (p.Gly49Arg)	MED25 (G49R)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2	GUncertain significance
Select item 657521	NM_030973.4(MED25):c.145G>T (p.Gly49Cys)	MED25 (G49C)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2	GUncertain significance
Select item 730501	NM_030973.4(MED25):c.150T>G (p.Gly50=)	MED25	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 543294	NM_030973.4(MED25):c.151C>T (p.Pro51Ser)	MED25 (P51S)	Single nucleotide variant (missense variant)	MED25-related disorder +2 more	GLikely benign
Select item 195384	NM_030973.4(MED25):c.165G>A (p.Thr55=)	MED25	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease +3 more	GBenign
Select item 917142	NM_030973.4(MED25):c.168C>T (p.Asp56=)	MED25	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease	GLikely benign
Select item 2143727	NM_030973.4(MED25):c.170T>G (p.Phe57Cys)	MED25 (F57C)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2	GUncertain significance
Select item 853370	NM_030973.4(MED25):c.170T>C (p.Phe57Ser)	MED25 (F57S)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2	GUncertain significance
Select item 1615545	NM_030973.4(MED25):c.174G>A (p.Gly58=)	MED25	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease type 2	GLikely benign
Select item 1625786	NM_030973.4(MED25):c.180+17C>G	MED25	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease type 2	GLikely benign
Select item 1295219	NM_030973.4(MED25):c.180+108G>C	MED25	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1295218	NM_030973.4(MED25):c.180+227A>G	MED25	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1295217	NM_030973.4(MED25):c.180+238T>C	MED25	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2048797	NM_030973.4(MED25):c.181-20T>C	MED25	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease type 2	GLikely benign
Select item 2808665	NM_030973.4(MED25):c.181-17C>G	MED25	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease type 2	GLikely benign
Select item 1554313	NM_030973.4(MED25):c.181-13C>T	MED25	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease type 2	GLikely benign
Select item 2884203	NM_030973.4(MED25):c.181-9C>T	MED25	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease type 2	GLikely benign
Select item 2077042	NM_030973.4(MED25):c.181-8C>T	MED25	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease type 2	GLikely benign
Select item 705321	NM_030973.4(MED25):c.181-7C>T	MED25	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease type 2	GLikely benign
Select item 1608111	NM_030973.4(MED25):c.181-4C>T	MED25	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease type 2	GLikely benign
Select item 2166877	NM_030973.4(MED25):c.189dup (p.Thr64fs)	MED25 (T64fs)	Duplication (frameshift variant)	Charcot-Marie-Tooth disease type 2	GUncertain significance
Select item 2918973	NM_030973.4(MED25):c.186G>C (p.Gly62=)	MED25	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease type 2	GLikely benign
Select item 917053	NM_030973.4(MED25):c.186G>A (p.Gly62=)	MED25	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease	GLikely benign
Select item 2898308	NM_030973.4(MED25):c.189G>A (p.Gly63=)	MED25	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease type 2	GLikely benign
Select item 969670	NM_030973.4(MED25):c.189G>T (p.Gly63=)	MED25	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease type 2	GLikely benign
Select item 2795464	NM_030973.4(MED25):c.192C>A (p.Thr64=)	MED25	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease type 2	GLikely benign
Select item 2280591	NM_030973.4(MED25):c.200G>C (p.Ser67Thr)	MED25 (S67T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2840340	NM_030973.4(MED25):c.210G>A (p.Val70=)	MED25	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease type 2	GLikely benign
Select item 1658741	NM_030973.4(MED25):c.213C>T (p.Phe71=)	MED25	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease type 2	GLikely benign
Select item 543263	NM_030973.4(MED25):c.228C>T (p.Cys76=)	MED25	Single nucleotide variant (synonymous variant)	not provided +2 more	GLikely benign
Select item 1500785	NM_030973.4(MED25):c.229G>C (p.Ala77Pro)	MED25 (A77P)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2	GUncertain significance
Select item 1513020	NM_030973.4(MED25):c.232C>G (p.Pro78Ala)	MED25 (P78A)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2	GUncertain significance
Select item 543279	NM_030973.4(MED25):c.234C>T (p.Pro78=)	MED25	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease type 2	GLikely benign
Select item 329878	NM_030973.4(MED25):c.234C>G (p.Pro78=)	MED25	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease +2 more	GBenign
Select item 647680	NM_030973.4(MED25):c.235G>A (p.Glu79Lys)	MED25 (E79K)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2	GUncertain significance
Select item 1610009	NM_030973.4(MED25):c.243C>T (p.Tyr81=)	MED25	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease type 2	GLikely benign
Select item 220541	NM_030973.4(MED25):c.247C>G (p.Gln83Glu)	MED25 (Q83E)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease +2 more	GUncertain significance
Select item 967207	NM_030973.4(MED25):c.248A>G (p.Gln83Arg)	MED25 (Q83R)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2	GUncertain significance
Select item 916777	NM_030973.4(MED25):c.249A>C (p.Gln83His)	MED25 (Q83H)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 704422	NM_030973.4(MED25):c.255C>T (p.His85=)	MED25	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease type 2	GLikely benign
Select item 2120623	NM_030973.4(MED25):c.259C>G (p.Pro87Ala)	MED25 (P87A)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2	GUncertain significance

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