MSH5[gene] - ClinVar

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Items: 56

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155430	GRCh38/hg38 6p25.3-12.3(chr6:156974-46789291)x3	CYP39A1, DAAM2 +2577 more	Copy number gain	See cases	GPathogenic
Select item 2607107	NM_172166.4(MSH5):c.59C>A (p.Ala20Asp)	MSH5, MSH5-SAPCD1 (A20D)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 992890	NM_172166.4(MSH5):c.75dup (p.Ser26fs)	MSH5, MSH5-SAPCD1 (S26fs)	Duplication (frameshift variant +1 more)	Non-obstructive azoospermia	GPathogenic
Select item 403111	NM_172166.4(MSH5):c.85C>T (p.Pro29Ser)	MSH5, MSH5-SAPCD1 (P29S)	Single nucleotide variant (non-coding transcript variant +1 more)	MSH5-related condition +1 more	GBenign
Select item 2477824	NM_172166.4(MSH5):c.152A>G (p.His51Arg)	MSH5, MSH5-SAPCD1 (H51R)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2550938	NM_172166.4(MSH5):c.197A>G (p.Tyr66Cys)	MSH5, MSH5-SAPCD1 (Y66C)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2257590	NM_172166.4(MSH5):c.246C>G (p.His82Gln)	MSH5, MSH5-SAPCD1 (H82Q)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3056913	NM_172166.4(MSH5):c.253C>T (p.Leu85Phe)	MSH5, MSH5-SAPCD1 (L85F)	Single nucleotide variant (non-coding transcript variant +1 more)	MSH5-related condition	GBenign
Select item 3033693	NM_172166.4(MSH5):c.261T>G (p.Leu87=)	MSH5, MSH5-SAPCD1	Single nucleotide variant (non-coding transcript variant +1 more)	MSH5-related condition	GLikely benign
Select item 718250	NM_172166.4(MSH5):c.306G>A (p.Thr102=)	MSH5, MSH5-SAPCD1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +1 more	GBenign/Likely benign
Select item 2271444	NM_172166.4(MSH5):c.526T>C (p.Cys176Arg)	MSH5, MSH5-SAPCD1 (C176R)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1328951	NM_172166.4(MSH5):c.537+1G>A	MSH5, MSH5-SAPCD1	Single nucleotide variant (splice donor variant)	Azoospermia	GPathogenic
Select item 3040060	NM_172166.4(MSH5):c.538-57C>T	MSH5, MSH5-SAPCD1	Single nucleotide variant (intron variant)	MSH5-related condition	GLikely benign
Select item 3065532	NM_172166.4(MSH5):c.542G>A (p.Arg181Gln)	MSH5, MSH5-SAPCD1 (R181Q +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Premature ovarian failure 13	GUncertain significance
Select item 2328959	NM_172166.4(MSH5):c.574C>G (p.Arg192Gly)	MSH5, MSH5-SAPCD1 (R192G +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2515242	NM_172166.4(MSH5):c.586G>A (p.Gly196Arg)	MSH5, MSH5-SAPCD1 (G213R +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1255996	NM_172166.4(MSH5):c.826C>T (p.Arg276Cys)	MSH5, MSH5-SAPCD1 (R276C +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Genetic non-acquired premature ovarian failure	GLikely pathogenic
Select item 2345299	NM_172166.4(MSH5):c.876G>T (p.Gln292His)	MSH5, MSH5-SAPCD1 (Q309H +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2488856	NM_172166.4(MSH5):c.949C>T (p.Pro317Ser)	MSH5, MSH5-SAPCD1 (P334S +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1077005	NM_172166.4(MSH5):c.964C>T (p.Arg322Cys)	MSH5, MSH5-SAPCD1 (R322C +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Non-obstructive azoospermia	GLikely pathogenic
Select item 2621463	NM_172166.4(MSH5):c.994G>A (p.Asp332Asn)	MSH5, MSH5-SAPCD1 (D349N +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1256029	NM_172166.4(MSH5):c.1051C>G (p.Arg351Gly)	MSH5, MSH5-SAPCD1 (R351G +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	MSH5-related condition +2 more	GBenign
Select item 2295162	NM_172166.4(MSH5):c.1120A>G (p.Ile374Val)	MSH5, MSH5-SAPCD1 (I391V +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2272861	NM_172166.4(MSH5):c.1156G>T (p.Gly386Cys)	MSH5-SAPCD1, MSH5 (G403C +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2283437	NM_172166.4(MSH5):c.1159A>G (p.Ser387Gly)	MSH5, MSH5-SAPCD1 (S404G +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2511268	NM_172166.4(MSH5):c.1165G>C (p.Ala389Pro)	MSH5, MSH5-SAPCD1 (A389P +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2396521	NM_172166.4(MSH5):c.1234G>C (p.Gly412Arg)	MSH5, MSH5-SAPCD1 (G412R +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2522735	NM_172166.4(MSH5):c.1351C>T (p.Arg451Cys)	MSH5, MSH5-SAPCD1 (R468C +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2277821	NM_172166.4(MSH5):c.1405A>G (p.Met469Val)	MSH5-SAPCD1, MSH5 (M469V +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 417969	NM_172166.4(MSH5):c.1459G>T (p.Asp487Tyr)	MSH5, MSH5-SAPCD1 (D487Y +1 more)	Single nucleotide variant (missense variant +1 more)	Premature ovarian failure 13	GPathogenic
Select item 3039548	NM_172166.4(MSH5):c.1496-10C>A	MSH5, MSH5-SAPCD1	Single nucleotide variant (intron variant)	MSH5-related condition	GLikely benign
Select item 2282180	NM_172166.4(MSH5):c.1497C>G (p.Asp499Glu)	MSH5, MSH5-SAPCD1 (D499E +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2347937	NM_172166.4(MSH5):c.1544G>A (p.Arg515Gln)	MSH5, MSH5-SAPCD1 (R515Q +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2467657	NM_172166.4(MSH5):c.1643G>A (p.Arg548His)	MSH5, MSH5-SAPCD1 (R548H +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 403110	NM_172166.4(MSH5):c.1716C>T (p.Thr572=)	MSH5, MSH5-SAPCD1	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GBenign
Select item 772875	NM_172166.4(MSH5):c.1738T>G (p.Cys580Gly)	MSH5, MSH5-SAPCD1 (C597G +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2578996	NM_172166.4(MSH5):c.1808A>G (p.Lys603Arg)	MSH5, MSH5-SAPCD1 (K603R +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	MSH5-related condition +1 more	GBenign/Likely benign
Select item 992891	NM_172166.4(MSH5):c.1857del (p.Ala620fs)	MSH5, MSH5-SAPCD1 (A620fs +1 more)	Deletion (non-coding transcript variant +1 more)	Non-obstructive azoospermia	GPathogenic
Select item 2312067	NM_172166.4(MSH5):c.2005C>T (p.Leu669Phe)	MSH5, MSH5-SAPCD1 (L669F +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2632077	NM_172166.4(MSH5):c.2071C>T (p.Arg691Ter)	MSH5, MSH5-SAPCD1 (R691* +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	MSH5-related condition	GLikely pathogenic
Select item 2590503	NM_172166.4(MSH5):c.2072G>T (p.Arg691Leu)	MSH5, MSH5-SAPCD1 (R692L +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2469700	NM_172166.4(MSH5):c.2072G>A (p.Arg691Gln)	MSH5, MSH5-SAPCD1 (R691Q +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2494581	NM_172166.4(MSH5):c.2104C>T (p.His702Tyr)	MSH5, MSH5-SAPCD1 (H702Y +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 403112	NM_172166.4(MSH5):c.2148A>G (p.Gln716=)	MSH5, MSH5-SAPCD1	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GBenign
Select item 2656417	NM_172166.4(MSH5):c.2335C>T (p.Arg779Cys)	MSH5, MSH5-SAPCD1 (R767C +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 2379844	NM_172166.4(MSH5):c.2335C>G (p.Arg779Gly)	MSH5, MSH5-SAPCD1 (R780G +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3056743	NM_172166.4(MSH5):c.2356C>T (p.Pro786Ser)	MSH5, MSH5-SAPCD1 (P774S +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	MSH5-related condition	GBenign
Select item 2411677	NM_172166.4(MSH5):c.2464A>G (p.Met822Val)	MSH5, MSH5-SAPCD1 (M810V +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 403113	NM_001039651.2(SAPCD1):c.296C>T (p.Pro99Leu)	MSH5, MSH5-SAPCD1 +1 more (P99L)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GBenign
Select item 2427350	NC_000006.11:g.(?_30695893)_(36953949_?)dup	KIFC1, LEMD2 +172 more	Duplication	Proteasome-associated autoinflammatory syndrome 1	GUncertain significance
Select item 2424220	NC_000006.11:g.(?_30695893)_(31937492_?)dup	ABHD16A, AIF1 +63 more	Duplication	not provided	GUncertain significance
Select item 1527232	GRCh37/hg19 6p21.33(chr6:31384577-31902308)	ABHD16A, AIF1 +40 more	Copy number gain	not specified	GUncertain significance
Select item 814807	GRCh37/hg19 6p21.33-21.31(chr6:31036397-34088832)x3	ABHD16A, AGER +117 more	Copy number gain	not provided	GLikely pathogenic
Select item 625706	GRCh37/hg19 6p22.1-q14.1(chr6:29455465-81447367)	LRRC1, LRRC73 +427 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

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Items: 56