MMS22L[gene] - ClinVar

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Items: 65

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 150937	GRCh38/hg38 6q13-24.1(chr6:74382807-142040500)x3	LOC123775388, LOC123775389 +1449 more	Copy number gain	See cases	GPathogenic
Select item 146487	GRCh38/hg38 6q14.2-16.1(chr6:83838303-98822313)x1	SMIM8, SNHG5 +247 more	Copy number loss	See cases	GPathogenic
Select item 150641	GRCh38/hg38 6q16.1-22.31(chr6:96609994-122161548)x1	LOC129389591, LOC129389592 +558 more	Copy number loss	See cases	GPathogenic
Select item 2493626	NM_001350599.2(MMS22L):c.3659A>G (p.Tyr1220Cys)	MMS22L (Y937C +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2324543	NM_001350599.2(MMS22L):c.3503G>A (p.Gly1168Asp)	MMS22L (G1168D +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2403957	NM_001350599.2(MMS22L):c.3487T>A (p.Phe1163Ile)	MMS22L (F1163I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2606876	NM_001350599.2(MMS22L):c.3281C>A (p.Ala1094Asp)	MMS22L (A1094D +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2344317	NM_001350599.2(MMS22L):c.3205A>G (p.Ile1069Val)	MMS22L (I1069V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2554612	NM_001350599.2(MMS22L):c.3073A>G (p.Asn1025Asp)	MMS22L (N742D +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2469838	NM_001350599.2(MMS22L):c.3022G>A (p.Val1008Met)	MMS22L (V1008M +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2362832	NM_001350599.2(MMS22L):c.3016T>C (p.Cys1006Arg)	MMS22L (C1006R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2320978	NM_001350599.2(MMS22L):c.2929C>T (p.His977Tyr)	MMS22L (H694Y +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2619192	NM_001350599.2(MMS22L):c.2838G>A (p.Met946Ile)	MMS22L (M663I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2326382	NM_001350599.2(MMS22L):c.2807G>A (p.Ser936Asn)	MMS22L (S936N +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2521317	NM_001350599.2(MMS22L):c.2728G>C (p.Ala910Pro)	MMS22L (A910P +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2411516	NM_001350599.2(MMS22L):c.2704G>A (p.Val902Ile)	MMS22L (V619I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2267065	NM_001350599.2(MMS22L):c.2638A>G (p.Ile880Val)	MMS22L (I880V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2385087	NM_001350599.2(MMS22L):c.2603G>A (p.Ser868Asn)	MMS22L (S868N +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2524085	NM_001350599.2(MMS22L):c.2411C>T (p.Ser804Leu)	MMS22L (S804L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2549417	NM_001350599.2(MMS22L):c.2330A>G (p.Asp777Gly)	MMS22L (D494G +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2396783	NM_001350599.2(MMS22L):c.2305A>G (p.Ile769Val)	MMS22L (I486V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2297333	NM_001350599.2(MMS22L):c.2287C>G (p.Pro763Ala)	MMS22L (P480A +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2400290	NM_001350599.2(MMS22L):c.2163C>G (p.Phe721Leu)	MMS22L (F438L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2540422	NM_001350599.2(MMS22L):c.2093T>C (p.Phe698Ser)	MMS22L (F415S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2250626	NM_001350599.2(MMS22L):c.2092T>A (p.Phe698Ile)	MMS22L (F415I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2282631	NM_001350599.2(MMS22L):c.1978T>C (p.Cys660Arg)	MMS22L (C377R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2291954	NM_001350599.2(MMS22L):c.1920C>G (p.Cys640Trp)	MMS22L (C357W +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2384494	NM_001350599.2(MMS22L):c.1847A>G (p.Gln616Arg)	MMS22L (Q333R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2391363	NM_001350599.2(MMS22L):c.1798C>T (p.Arg600Trp)	MMS22L (R317W +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2592812	NM_001350599.2(MMS22L):c.1790G>A (p.Cys597Tyr)	MMS22L (C314Y +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2401092	NM_001350599.2(MMS22L):c.1693T>C (p.Ser565Pro)	MMS22L (S282P +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2569157	NM_001350599.2(MMS22L):c.1642G>T (p.Ala548Ser)	MMS22L (A265S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2285882	NM_001350599.2(MMS22L):c.1627G>A (p.Glu543Lys)	MMS22L (E260K +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2327095	NM_001350599.2(MMS22L):c.1590C>G (p.Asn530Lys)	MMS22L (N247K +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2555500	NM_001350599.2(MMS22L):c.1580G>T (p.Gly527Val)	MMS22L (G244V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2514463	NM_001350599.2(MMS22L):c.1505A>T (p.His502Leu)	MMS22L (H502L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2364624	NM_001350599.2(MMS22L):c.1499G>A (p.Gly500Asp)	MMS22L (G500D +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2517184	NM_001350599.2(MMS22L):c.1469A>G (p.Lys490Arg)	MMS22L (K207R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2335165	NM_001350599.2(MMS22L):c.1155A>C (p.Glu385Asp)	MMS22L (E102D +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2255857	NM_001350599.2(MMS22L):c.1010C>A (p.Ser337Tyr)	MMS22L (S337Y +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2367845	NM_001350599.2(MMS22L):c.851T>C (p.Met284Thr)	MMS22L (M1T +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2609320	NM_001350599.2(MMS22L):c.776G>T (p.Cys259Phe)	MMS22L (C259F)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2226973	NM_001350599.2(MMS22L):c.720G>C (p.Gln240His)	MMS22L (Q240H)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2287983	NM_001350599.2(MMS22L):c.688G>A (p.Glu230Lys)	MMS22L (E230K)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2350417	NM_001350599.2(MMS22L):c.681G>A (p.Met227Ile)	MMS22L (M227I)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2274693	NM_001350599.2(MMS22L):c.566G>T (p.Ser189Ile)	MMS22L (S189I)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2459301	NM_001350599.2(MMS22L):c.538T>C (p.Tyr180His)	MMS22L (Y180H)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2482835	NM_001350599.2(MMS22L):c.383A>G (p.Gln128Arg)	MMS22L (Q128R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2205047	NM_001350599.2(MMS22L):c.109G>A (p.Gly37Arg)	MMS22L (G37R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2594615	NM_001350599.2(MMS22L):c.77C>T (p.Pro26Leu)	MMS22L (P26L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2297940	NM_001350599.2(MMS22L):c.62C>T (p.Thr21Met)	MMS22L (T21M)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3062939	GRCh37/hg19 6q15-16.3(chr6:91677067-101879124)x3	FAXC, ASCC3 +20 more	Copy number gain	not specified	GUncertain significance
Select item 2685211	GRCh37/hg19 6q15-21(chr6:92468126-109410569)x1	AFG1L, ARMC2 +43 more	Copy number loss	not provided	GPathogenic
Select item 1807838	GRCh37/hg19 6q16.1-21(chr6:96596732-105554568)x1	ASCC3, BVES +21 more	Copy number loss	not provided	GPathogenic
Select item 1807814	GRCh37/hg19 6q16.1-21(chr6:96946110-106497526)x1	ASCC3, BVES +22 more	Copy number loss	not provided	GPathogenic
Select item 1711170	GRCh37/hg19 6q14.1-16.1(chr6:78911022-98909173)x1	AKIRIN2, ANKRD6 +65 more	Copy number loss	See cases	GUncertain significance
Select item 1527267	GRCh37/hg19 6q15-16.3(chr6:92576950-104658245)	ASCC3, CCNC +20 more	Copy number loss	not specified	GPathogenic
Select item 1527266	GRCh37/hg19 6q15-22.2(chr6:92054891-118329651)	FBXL4, WASF1 +98 more	Copy number loss	not specified	GPathogenic
Select item 1527263	GRCh37/hg19 6q14.3-22.31(chr6:85988428-120548687)	CALHM4, PRDM13 +138 more	Copy number loss	not specified	GPathogenic
Select item 563204	GRCh37/hg19 6q16.1-22.1(chr6:95549951-116684929)x1	AFG1L, AK9 +80 more	Copy number loss	not provided	GPathogenic
Select item 563199	GRCh37/hg19 6q14.1-16.1(chr6:81261418-97796269)x3	AKIRIN2, ANKRD6 +56 more	Copy number gain	not provided	GPathogenic
Select item 443497	GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)	AIRN, BNIP5 +1028 more	Copy number gain	See cases	GPathogenic
Select item 443496	GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)x3	PDE10A, PDE7B +1028 more	Copy number gain	See cases	GPathogenic
Select item 443296	GRCh37/hg19 6q16.1-21(chr6:94202605-109878834)x1	KLHL32, LIN28B +49 more	Copy number loss	See cases	GPathogenic
Select item 442063	GRCh37/hg19 6q16.1-21(chr6:97384446-110247755)x1	AFG1L, AK9 +44 more	Copy number loss	See cases	GPathogenic

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Items: 65