Related gene-specific medical variations for Gene (Select 51199) - ClinVar

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Items: 58

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3022167	NM_020921.4(NIN):c.104A>G (p.Asp35Gly)	LOC105370489, NIN (D35G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3012912	NM_020921.4(NIN):c.183+14A>T	LOC105370489, NIN	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 3009374	NM_020921.4(NIN):c.183+20G>A	LOC105370489, LOC130055610 +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2999037	NM_020921.4(NIN):c.130G>A (p.Glu44Lys)	LOC105370489, NIN (E44K)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 2981174	NM_020921.4(NIN):c.1989C>G (p.His663Gln)	LOC130055602, NIN (H663Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2964876	NM_020921.4(NIN):c.5115T>A (p.Val1705=)	LOC126861936, NIN	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2964735	NM_020921.4(NIN):c.1989C>T (p.His663=)	LOC130055602, NIN	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2957985	NM_020921.4(NIN):c.5079C>T (p.Pro1693=)	LOC126861936, NIN	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2895360	NM_020921.4(NIN):c.2040G>A (p.Gln680=)	LOC130055602, NIN	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2895021	NM_020921.4(NIN):c.1958A>G (p.Asn653Ser)	LOC130055602, NIN (N653S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2875497	NM_020921.4(NIN):c.97C>G (p.Leu33Val)	LOC105370489, NIN (L33V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2874200	NM_020921.4(NIN):c.5083C>A (p.Leu1695Ile)	LOC126861936, NIN (L1695I +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2854801	NM_020921.4(NIN):c.1965G>A (p.Lys655=)	LOC130055602, NIN	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2784149	NM_020921.4(NIN):c.5073A>G (p.Arg1691=)	LOC126861936, NIN	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2779228	NM_020921.4(NIN):c.131A>T (p.Glu44Val)	LOC105370489, NIN (E44V)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2779227	NM_020921.4(NIN):c.134T>C (p.Val45Ala)	LOC105370489, NIN (V45A)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 2713984	NM_020921.4(NIN):c.2005A>G (p.Ile669Val)	LOC130055602, NIN (I669V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2693052	NM_020921.4(NIN):c.57T>G (p.Ser19Arg)	LOC105370489, NIN (S19R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2689583	NM_020921.4(NIN):c.5830G>A (p.Glu1944Lys)	NIN (E1231K +1 more)	Single nucleotide variant (missense variant)	Seckel syndrome 7	GUncertain significance
Select item 2644233	NM_020921.4(NIN):c.66G>A (p.Thr22=)	LOC105370489, NIN	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2467475	NM_020921.4(NIN):c.10G>C (p.Val4Leu)	LOC105370489, NIN (V4L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2434355	NM_020921.4(NIN):c.5781_5784del (p.Ser1927fs)	NIN (S1214fs +1 more)	Microsatellite (frameshift variant)	Seckel syndrome 7	GUncertain significance
Select item 2429277	NM_020921.4(NIN):c.1966C>T (p.Gln656Ter)	LOC130055602, NIN (Q656*)	Single nucleotide variant (nonsense)	Seckel syndrome 7	GLikely pathogenic
Select item 2379891	NM_020921.4(NIN):c.2024A>T (p.Glu675Val)	LOC130055602, NIN (E675V)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2361094	NM_020921.4(NIN):c.35G>A (p.Arg12Gln)	LOC105370489, NIN (R12Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2308760	NM_020921.4(NIN):c.2026A>G (p.Ile676Val)	LOC130055602, NIN (I676V)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2295344	NM_020921.4(NIN):c.1987C>T (p.His663Tyr)	LOC130055602, NIN (H663Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2237282	NM_020921.4(NIN):c.1999A>G (p.Lys667Glu)	LOC130055602, NIN (K667E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2156646	NM_020921.4(NIN):c.68C>T (p.Thr23Met)	LOC105370489, NIN (T23M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2129281	NM_020921.4(NIN):c.5065C>T (p.Leu1689=)	LOC126861936, NIN	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 2111086	NM_020921.4(NIN):c.1952A>G (p.Gln651Arg)	LOC130055602, NIN (Q651R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2058801	NM_020921.4(NIN):c.5172T>C (p.Asn1724=)	LOC126861936, NIN	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2045142	NM_020921.4(NIN):c.89A>C (p.Gln30Pro)	LOC105370489, NIN (Q30P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1974179	NM_020921.4(NIN):c.102C>T (p.Thr34=)	LOC105370489, NIN	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1905080	NM_020921.4(NIN):c.65C>T (p.Thr22Met)	NIN, LOC105370489 (T22M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1902381	NM_020921.4(NIN):c.1974_1975inv (p.Glu659Lys)	LOC130055602, NIN (E659K)	Inversion (missense variant)	not provided	GUncertain significance
Select item 1902144	NM_020921.4(NIN):c.139C>G (p.Pro47Ala)	LOC105370489, NIN (P47A)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 1898842	NM_020921.4(NIN):c.133G>A (p.Val45Met)	LOC105370489, NIN (V45M)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1809028	GRCh37/hg19 14q22.1(chr14:51181339-51264148)x1	NIN	Copy number loss	not provided	GUncertain significance
Select item 1585934	NM_020921.4(NIN):c.1995A>G (p.Leu665=)	LOC130055602, NIN	Single nucleotide variant (synonymous variant)	NIN-related condition +1 more	GLikely benign
Select item 1359419	NM_020921.4(NIN):c.1930G>A (p.Val644Met)	LOC130055602, NIN (V644M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1340947	GRCh37/hg19 14q22.1(chr14:51153232-51204701)x1	NIN	Copy number loss	not provided	GUncertain significance
Select item 1337987	NM_020921.4(NIN):c.5187G>T (p.Lys1729Asn)	LOC126861936, NIN (K1016N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1288161	NM_020921.4(NIN):c.5187+157del	LOC126861936, NIN	Deletion (intron variant)	not provided	GBenign
Select item 1274504	NM_020921.4(NIN):c.5187+108A>G	LOC126861936, NIN	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1238525	NM_020921.4(NIN):c.1897-80_1897-79del	LOC130055603, NIN	Deletion (intron variant)	not provided	GBenign
Select item 980490	GRCh37/hg19 14q22.1(chr14:51181338-51258952)x1	NIN	Copy number loss	not provided	GUncertain significance
Select item 930474	NM_020921.4(NIN):c.6079-1686G>A	NIN	Single nucleotide variant (intron variant +1 more)	Seckel syndrome 7	GLikely pathogenic
Select item 804469	NM_020921.4(NIN):c.6115C>T (p.Arg2039Ter)	NIN (R2039* +1 more)	Single nucleotide variant (nonsense)	Seckel syndrome 7	GLikely pathogenic
Select item 790684	NM_020921.4(NIN):c.2041G>A (p.Gly681Arg)	NIN, LOC130055602 (G681R)	Single nucleotide variant (missense variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 723723	NM_020921.4(NIN):c.5138T>C (p.Leu1713Pro)	LOC126861936, NIN (L1000P +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely benign
Select item 716999	NM_020921.4(NIN):c.2072A>G (p.His691Arg)	LOC130055602, NIN (H691R)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 689178	GRCh37/hg19 14q22.1(chr14:51152773-51216251)x1	NIN	Copy number loss	not provided	GPathogenic
Select item 685031	GRCh37/hg19 14q22.1(chr14:51158193-51200652)x3	NIN	Copy number gain	not provided	GUncertain significance
Select item 436001	NM_020921.4(NIN):c.1991C>T (p.Thr664Ile)	LOC130055602, NIN (T664I)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 129794	NM_020921.4(NIN):c.5075G>A (p.Cys1692Tyr)	LOC126861936, NIN (C1692Y +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 129781	NM_020921.4(NIN):c.1974T>C (p.His658=)	LOC130055602, NIN	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 37291	NM_020921.4(NIN):c.5126A>G (p.Asn1709Ser)	LOC126861936, NIN (N1709S +1 more)	Single nucleotide variant (missense variant)	Seckel syndrome 7 +2 more	GConflicting classifications of pathogenicity

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Links from Gene

Items: 58