NIN[Gene Name] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155306	GRCh38/hg38 14q11.2-32.33(chr14:20043514-106877229)x3	LOC125048431, LOC125048432 +3280 more	Copy number gain	See cases	GPathogenic
Select item 146230	GRCh38/hg38 14q11.2-32.33(chr14:20151149-106855263)x3	FSCB, FUT8 +3275 more	Copy number gain	See cases	GPathogenic
Select item 152063	GRCh38/hg38 14q21.1-22.3(chr14:39196172-56714461)x3	ABHD12B, ARF6 +394 more	Copy number gain	See cases	GLikely pathogenic
Select item 58307	GRCh38/hg38 14q21.3-22.1(chr14:50091150-51777325)x3	ABHD12B, ATL1 +70 more	Copy number gain	See cases	GUncertain significance
Select item 57779	GRCh38/hg38 14q22.1-22.3(chr14:50591011-56286919)x1	ABHD12B, ATG14 +217 more	Copy number loss	See cases	GPathogenic
Select item 151226	GRCh38/hg38 14q22.1(chr14:50689616-50793614)x3	LOC126861936, LOC130055602 +8 more	Copy number gain	See cases	GUncertain significance
Select item 58308	GRCh38/hg38 14q22.1(chr14:50713909-50954844)x3	ABHD12B, LOC105370489 +23 more	Copy number gain	See cases	GUncertain significance
Select item 2873889	NM_020921.4(NIN):c.6373T>C (p.Leu2125=)	NIN	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 797113	NM_020921.4(NIN):c.6372A>G (p.Pro2124=)	NIN	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2174816	NM_020921.4(NIN):c.6364C>A (p.Pro2122Thr)	NIN (P2122T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2155912	NM_020921.4(NIN):c.6307A>G (p.Asn2103Asp)	NIN (N2103D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1376466	NM_020921.4(NIN):c.6295G>A (p.Ala2099Thr)	NIN (A2099T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2254604	NM_020921.4(NIN):c.6289A>G (p.Lys2097Glu)	NIN (K2097E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1029793	NM_020921.4(NIN):c.6275C>T (p.Thr2092Ile)	NIN (T2092I)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2997121	NM_020921.4(NIN):c.6258G>A (p.Leu2086=)	NIN	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 744595	NM_020921.4(NIN):c.6255G>A (p.Leu2085=)	NIN	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 235135	NM_020921.4(NIN):c.6244A>G (p.Asn2082Asp)	NIN (N2082D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2155268	NM_020921.4(NIN):c.6225G>C (p.Val2075=)	NIN	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1903831	NM_020921.4(NIN):c.6223G>T (p.Val2075Leu)	NIN (V2075L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2363574	NM_020921.4(NIN):c.6206C>G (p.Thr2069Ser)	NIN (T2069S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1274581	NM_020921.4(NIN):c.6192+176C>T	NIN	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1261594	NM_020921.4(NIN):c.6192+100C>G	NIN	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GBenign
Select item 1651111	NM_020921.4(NIN):c.6192+13G>A	NIN (G1356S +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 1250757	NM_020921.4(NIN):c.6192+12C>T	NIN	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GBenign
Select item 2711870	NM_020921.4(NIN):c.6156G>T (p.Arg2052Ser)	NIN (R2052S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2349559	NM_020921.4(NIN):c.6156G>C (p.Arg2052Ser)	NIN (R1339S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2325657	NM_020921.4(NIN):c.6155G>C (p.Arg2052Thr)	NIN (R2052T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2155125	NM_020921.4(NIN):c.6154A>G (p.Arg2052Gly)	NIN (R1339G +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 2608288	NM_020921.4(NIN):c.6138A>T (p.Lys2046Asn)	NIN (K2046N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 2766961	NM_020921.4(NIN):c.6106dup (p.Met2036fs)	NIN (M1323fs +1 more)	Duplication (frameshift variant)	not provided	GUncertain significance
Select item 3200093	NM_020921.4(NIN):c.6097G>T (p.Val2033Leu)	NIN (V1320L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2179717	NM_020921.4(NIN):c.6096_6097delinsTT (p.Val2033Leu)	NIN (V1320L +1 more)	Indel (missense variant)	not provided	GUncertain significance
Select item 2960756	NM_020921.4(NIN):c.6079-20T>C	NIN	Single nucleotide variant (intron variant)	not provided	GLikely benign
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 1289951	NM_020921.4(NIN):c.6078+254A>T	NIN	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1227401	NM_020921.4(NIN):c.6078+252dup	NIN	Duplication (intron variant)	not provided	GBenign
Select item 1280062	NM_020921.4(NIN):c.6078+99A>G	NIN	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1988153	NM_020921.4(NIN):c.6078+18_6078+22del	NIN	Microsatellite (intron variant)	not provided	GLikely benign
Select item 2077530	NM_020921.4(NIN):c.6078+10T>C	NIN	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3018447	NM_020921.4(NIN):c.6078+3A>G	NIN	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 129801	NM_020921.4(NIN):c.6068A>G (p.Asn2023Ser)	NIN (N2023S +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3018544	NM_020921.4(NIN):c.6061G>A (p.Glu2021Lys)	NIN (E1308K +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2182096	NM_020921.4(NIN):c.6055A>G (p.Thr2019Ala)	NIN (T2019A +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2828771	NM_020921.4(NIN):c.6043C>A (p.Leu2015Ile)	NIN (L1302I +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2908767	NM_020921.4(NIN):c.6036G>A (p.Gln2012=)	NIN	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2113946	NM_020921.4(NIN):c.6035A>T (p.Gln2012Leu)	NIN (Q2012L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2243943	NM_020921.4(NIN):c.6030C>A (p.His2010Gln)	NIN (H2010Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1952673	NM_020921.4(NIN):c.6026A>C (p.Gln2009Pro)	NIN (Q2009P +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1993894	NM_020921.4(NIN):c.6013G>A (p.Glu2005Lys)	NIN (E1292K +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2882446	NM_020921.4(NIN):c.6006G>A (p.Leu2002=)	NIN	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 435996	NM_020921.4(NIN):c.5996G>A (p.Arg1999His)	NIN (R1999H +1 more)	Single nucleotide variant (missense variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 2048346	NM_020921.4(NIN):c.5995C>T (p.Arg1999Cys)	NIN (R1286C +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely benign
Select item 2904081	NM_020921.4(NIN):c.5994A>G (p.Gln1998=)	NIN	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3200092	NM_020921.4(NIN):c.5988G>C (p.Gln1996His)	NIN (Q1283H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1954629	NM_020921.4(NIN):c.5984T>C (p.Leu1995Pro)	NIN (L1282P +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2604511	NM_020921.4(NIN):c.5968C>T (p.Pro1990Ser)	NIN (P1277S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 755290	NM_020921.4(NIN):c.5961G>A (p.Pro1987=)	NIN	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2361104	NM_020921.4(NIN):c.5960C>T (p.Pro1987Leu)	NIN (P1274L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2887331	NM_020921.4(NIN):c.5959C>T (p.Pro1987Ser)	NIN (P1987S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3200091	NM_020921.4(NIN):c.5957G>A (p.Cys1986Tyr)	NIN (C1986Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3200090	NM_020921.4(NIN):c.5945A>T (p.Gln1982Leu)	NIN (Q1982L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2717646	NM_020921.4(NIN):c.5915C>T (p.Ser1972Phe)	NIN (S1259F +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 722407	NM_020921.4(NIN):c.5913G>A (p.Pro1971=)	NIN	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2083963	NM_020921.4(NIN):c.5912C>T (p.Pro1971Leu)	NIN (P1971L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 734344	NM_020921.4(NIN):c.5912C>A (p.Pro1971Gln)	NIN (P1258Q +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 731459	NM_020921.4(NIN):c.5904G>A (p.Thr1968=)	NIN	Single nucleotide variant (synonymous variant)	NIN-related disorder +1 more	GLikely benign
Select item 129799	NM_020921.4(NIN):c.5903C>T (p.Thr1968Met)	NIN (T1968M +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2051966	NM_020921.4(NIN):c.5901G>A (p.Ala1967=)	NIN	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2074514	NM_020921.4(NIN):c.5900C>T (p.Ala1967Val)	NIN (A1254V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 724924	NM_020921.4(NIN):c.5894C>G (p.Ser1965Cys)	NIN (S1965C +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2776839	NM_020921.4(NIN):c.5878-12C>G	NIN	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1288340	NM_020921.4(NIN):c.5878-216A>G	NIN	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1251843	NM_020921.4(NIN):c.5878-270G>A	NIN	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2041759	NM_020921.4(NIN):c.5877+3A>G	NIN	Single nucleotide variant (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2017597	NM_020921.4(NIN):c.5873T>C (p.Met1958Thr)	NIN (M1958T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2617237	NM_020921.4(NIN):c.5863G>A (p.Glu1955Lys)	NIN (E1242K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2176466	NM_020921.4(NIN):c.5849A>C (p.Gln1950Pro)	NIN (Q1237P +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2990442	NM_020921.4(NIN):c.5836C>T (p.Leu1946=)	NIN	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 2693213	NM_020921.4(NIN):c.5809G>A (p.Glu1937Lys)	NIN (E1937K +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 129798	NM_020921.4(NIN):c.5800C>G (p.Gln1934Glu)	NIN (Q1934E +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
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 728478	NM_020921.4(NIN):c.5776-7dup	NIN	Duplication (intron variant)	not provided	GBenign
Select item 1281239	NM_020921.4(NIN):c.5775+293C>T	NIN	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1668474	NM_020921.4(NIN):c.5775+16T>C	NIN	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2164945	NM_020921.4(NIN):c.5763T>C (p.Pro1921=)	NIN	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 756565	NM_020921.4(NIN):c.5763T>A (p.Pro1921=)	NIN	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2033195	NM_020921.4(NIN):c.5740C>G (p.Gln1914Glu)	NIN (Q1914E +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1916111	NM_020921.4(NIN):c.5733G>C (p.Glu1911Asp)	NIN (E1198D +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 3200089	NM_020921.4(NIN):c.5732A>G (p.Glu1911Gly)	NIN (E1911G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2321333	NM_020921.4(NIN):c.5710G>A (p.Glu1904Lys)	NIN (E1191K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2978282	NM_020921.4(NIN):c.5702C>T (p.Thr1901Ile)	NIN (T1901I +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2956465	NM_020921.4(NIN):c.5700C>A (p.Pro1900=)	NIN	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2533475	NM_020921.4(NIN):c.5692A>G (p.Met1898Val)	NIN (M1898V +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2080288	NM_020921.4(NIN):c.5683T>A (p.Ser1895Thr)	NIN (S1895T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 723749	NM_020921.4(NIN):c.5682A>G (p.Pro1894=)	NIN	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1613568	NM_020921.4(NIN):c.5648A>G (p.Asn1883Ser)	NIN (N1170S +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 129797	NM_020921.4(NIN):c.5637G>A (p.Gln1879=)	NIN	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 2177570	NM_020921.4(NIN):c.5633G>A (p.Arg1878His)	NIN (R1165H +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance

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