1985[HGNC] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 150740	GRCh38/hg38 12p13.33-q24.33(chr12:121271-133196807)x3	LOC130008916, LOC130008917 +4836 more	Copy number gain	See cases	GPathogenic
Select item 155589	GRCh38/hg38 12q24.21-24.33(chr12:114268403-133201316)x3	TRD-GTC2-10, TRD-GTC2-9 +906 more	Copy number gain	See cases	GPathogenic
Select item 59821	GRCh38/hg38 12q24.21-24.33(chr12:115131583-133166920)x3	AACS, ABCB9 +892 more	Copy number gain	See cases	GPathogenic
Select item 57207	GRCh38/hg38 12q24.23-24.33(chr12:118165459-133182322)x3	HNF1A, HNF1A-AS1 +786 more	Copy number gain	See cases	GPathogenic
Select item 58232	GRCh38/hg38 12q24.23-24.31(chr12:119286893-122638552)x3	CFAP251, CIT +264 more	Copy number gain	See cases	GUncertain significance
Select item 2643382	NM_001206999.2(CIT):c.*1341AGC[1]	CIT	Microsatellite (3 prime UTR variant)	not provided	GLikely benign
Select item 1708009	NM_001206999.2(CIT):c.6192G>T (p.Trp2064Cys)	CIT (W2022C +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 731244	NM_001206999.2(CIT):c.6189C>G (p.Val2063=)	CIT	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 3049292	NM_001206999.2(CIT):c.6187-4C>T	CIT	Single nucleotide variant (intron variant)	CIT-related disorder	GLikely benign
Select item 1264110	NM_001206999.2(CIT):c.6187-20CCT[3]	CIT	Microsatellite (intron variant)	not provided	GBenign
Select item 1217444	NM_001206999.2(CIT):c.6187-24C>T	CIT	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1202291	NM_001206999.2(CIT):c.6186+221G>A	CIT	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1182173	NM_001206999.2(CIT):c.6186+208A>G	CIT	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2857694	NM_001206999.2(CIT):c.6186+16G>A	CIT	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1809903	NM_001206999.2(CIT):c.6186G>A (p.Lys2062=)	CIT	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 2033914	NM_001206999.2(CIT):c.6170T>C (p.Leu2057Pro)	CIT (L2015P +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2179790	NM_001206999.2(CIT):c.6157G>A (p.Val2053Met)	CIT (V2053M +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 739463	NM_001206999.2(CIT):c.6156C>T (p.Ala2052=)	CIT	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2552299	NM_001206999.2(CIT):c.6149C>A (p.Ala2050Glu)	CIT (A2008E +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3267446	NM_001206999.2(CIT):c.6140G>A (p.Arg2047Gln)	CIT (R2047Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1713921	NM_001206999.2(CIT):c.6137G>T (p.Gly2046Val)	CIT (G2004V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2303639	NM_001206999.2(CIT):c.6100C>T (p.Arg2034Trp)	CIT (R2034W +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 713252	NM_001206999.2(CIT):c.6060A>G (p.Arg2020=)	CIT	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 732552	NM_001206999.2(CIT):c.6051C>T (p.Pro2017=)	CIT	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1308178	NM_001206999.2(CIT):c.6025C>T (p.Arg2009Cys)	CIT (R1967C +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1254402	NM_001206999.2(CIT):c.5999G>A (p.Arg2000His)	CIT (R1958H +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2389962	NM_001206999.2(CIT):c.5987G>A (p.Ser1996Asn)	CIT (S1996N +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3145162	NM_001206999.2(CIT):c.5980G>C (p.Glu1994Gln)	CIT (E1952Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2344100	NM_001206999.2(CIT):c.5969G>A (p.Ser1990Asn)	CIT (S1948N +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 786235	NM_001206999.2(CIT):c.5955G>T (p.Pro1985=)	CIT	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 3044265	NM_001206999.2(CIT):c.5916C>T (p.Asn1972=)	CIT	Single nucleotide variant (synonymous variant)	CIT-related disorder	GLikely benign
Select item 2095884	NM_001206999.2(CIT):c.5883-19G>A	CIT	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1287354	NM_001206999.2(CIT):c.5882+134C>T	CIT	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2620691	NM_001206999.2(CIT):c.5879G>A (p.Arg1960His)	CIT (R1960H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 779611	NM_001206999.2(CIT):c.5868G>A (p.Pro1956=)	CIT	Single nucleotide variant (synonymous variant)	CIT-related disorder +2 more	GBenign
Select item 434769	NM_001206999.2(CIT):c.5861G>A (p.Arg1954Gln)	CIT (R1954Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2161513	NM_001206999.2(CIT):c.5850T>G (p.Thr1950=)	CIT	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 2308007	NM_001206999.2(CIT):c.5848A>G (p.Thr1950Ala)	CIT (T1908A +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 750345	NM_001206999.2(CIT):c.5832C>T (p.Leu1944=)	CIT	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2903600	NM_001206999.2(CIT):c.5829C>T (p.Asn1943=)	CIT	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2317623	NM_001206999.2(CIT):c.5807G>C (p.Arg1936Thr)	CIT (R1936T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 207865	NM_001206999.2(CIT):c.5786C>A (p.Ser1929Tyr)	CIT (S1929Y +1 more)	Single nucleotide variant (missense variant)	Long QT syndrome	GUncertain significance
Select item 207961	NM_001206999.2(CIT):c.5783C>T (p.Ala1928Val)	CIT (A1928V +1 more)	Single nucleotide variant (missense variant)	Long QT syndrome	GUncertain significance
Select item 2643383	NM_001206999.2(CIT):c.5772G>A (p.Ala1924=)	CIT	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1197548	NM_001206999.2(CIT):c.5733G>A (p.Pro1911=)	CIT	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1286810	NM_001206999.2(CIT):c.5702+64C>A	CIT	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3145160	NM_001206999.2(CIT):c.5627A>G (p.Tyr1876Cys)	CIT (Y1834C +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1210947	NM_001206999.2(CIT):c.5624-23G>A	CIT	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1231707	NM_001206999.2(CIT):c.5624-70A>G	CIT	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1202652	NM_001206999.2(CIT):c.5624-261G>A	CIT	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1185710	NM_001206999.2(CIT):c.5623+251A>C	CIT	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1248964	NM_001206999.2(CIT):c.5623+244C>T	CIT	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1197395	NM_001206999.2(CIT):c.5623+25T>C	CIT	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 774707	NM_001206999.2(CIT):c.5623+9G>A	CIT	Single nucleotide variant (intron variant)	not specified +1 more	GBenign
Select item 3039941	NM_001206999.2(CIT):c.5613T>G (p.Pro1871=)	CIT	Single nucleotide variant (synonymous variant)	CIT-related disorder	GLikely benign
Select item 1205911	NM_001206999.2(CIT):c.5590G>A (p.Asp1864Asn)	CIT (D1822N +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1997805	NM_001206999.2(CIT):c.5581C>T (p.Arg1861Cys)	CIT (R1819C +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2612481	NM_001206999.2(CIT):c.5576G>A (p.Arg1859His)	CIT (R1817H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 716685	NM_001206999.2(CIT):c.5568C>T (p.Tyr1856=)	CIT	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1222382	NM_001206999.2(CIT):c.5543-49C>G	CIT	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1288243	NM_001206999.2(CIT):c.5543-223T>C	CIT	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1249108	NM_001206999.2(CIT):c.5543-235C>T	CIT	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1202161	NM_001206999.2(CIT):c.5542+323C>G	CIT	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1282024	NM_001206999.2(CIT):c.5542+184G>C	CIT	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2879047	NM_001206999.2(CIT):c.5542+16G>T	CIT	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3145159	NM_001206999.2(CIT):c.5538C>A (p.Phe1846Leu)	CIT (F1846L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2228558	NM_001206999.2(CIT):c.5515C>T (p.Arg1839Ter)	CIT (R1839* +1 more)	Single nucleotide variant (nonsense)	Inborn genetic diseases	GPathogenic
Select item 791323	NM_001206999.2(CIT):c.5506G>A (p.Ala1836Thr)	CIT (A1794T +1 more)	Single nucleotide variant (missense variant)	CIT-related disorder +3 more	GLikely benign
Select item 741523	NM_001206999.2(CIT):c.5505C>T (p.Ser1835=)	CIT	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2352235	NM_001206999.2(CIT):c.5491G>A (p.Val1831Met)	CIT (V1831M +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 744996	NM_001206999.2(CIT):c.5460C>T (p.Ala1820=)	CIT	Single nucleotide variant (synonymous variant)	CIT-related disorder +1 more	GLikely benign
Select item 2481549	NM_001206999.2(CIT):c.5446C>T (p.Pro1816Ser)	CIT (P1774S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 764793	NM_001206999.2(CIT):c.5414-4A>G	CIT	Single nucleotide variant (intron variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 1200238	NM_001206999.2(CIT):c.5413+22G>A	CIT	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3050055	NM_001206999.2(CIT):c.5409C>A (p.Leu1803=)	CIT	Single nucleotide variant (synonymous variant)	CIT-related disorder	GLikely benign
Select item 592099	NM_001206999.2(CIT):c.5405C>T (p.Thr1802Met)	CIT (T1802M +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2515829	NM_001206999.2(CIT):c.5383G>A (p.Glu1795Lys)	CIT (E1753K +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1302564	NM_001206999.2(CIT):c.5383G>C (p.Glu1795Gln)	CIT (E1753Q +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1221769	NM_001206999.2(CIT):c.5367A>C (p.Gly1789=)	CIT	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 746903	NM_001206999.2(CIT):c.5316C>A (p.Thr1772=)	CIT	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1206442	NM_001206999.2(CIT):c.5305-108A>G	CIT	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1278773	NM_001206999.2(CIT):c.5305-163dup	CIT	Duplication (intron variant)	not provided	GBenign
Select item 1180041	NM_001206999.2(CIT):c.5305-151del	CIT	Deletion (intron variant)	not provided	GBenign
Select item 1205301	NM_001206999.2(CIT):c.5305-211T>C	CIT	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1207686	NM_001206999.2(CIT):c.5304+262C>T	CIT	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1204433	NM_001206999.2(CIT):c.5304+44C>A	CIT	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2216897	NM_001206999.2(CIT):c.5294G>C (p.Cys1765Ser)	CIT (C1723S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2430356	NM_001206999.2(CIT):c.5279A>C (p.Asn1760Thr)	CIT (N1718T +1 more)	Single nucleotide variant (missense variant)	See cases	GUncertain significance
Select item 756202	NM_001206999.2(CIT):c.5274C>T (p.Asn1758=)	CIT	Single nucleotide variant (synonymous variant)	CIT-related disorder +1 more	GLikely benign
Select item 3267450	NM_001206999.2(CIT):c.5257G>A (p.Val1753Ile)	CIT (V1753I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2040305	NM_001206999.2(CIT):c.5256C>T (p.Val1752=)	CIT	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1321818	NM_001206999.2(CIT):c.5238A>C (p.Ala1746=)	CIT	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 756036	NM_001206999.2(CIT):c.5212-6T>C	CIT	Single nucleotide variant (intron variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 1264021	NM_001206999.2(CIT):c.5212-105G>T	CIT	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1178974	NM_001206999.2(CIT):c.5212-223G>A	CIT	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1288706	NM_001206999.2(CIT):c.5211+321G>C	CIT	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1242022	NM_001206999.2(CIT):c.5211+130del	CIT	Deletion (intron variant)	not provided	GBenign
Select item 1261439	NM_001206999.2(CIT):c.5208C>G (p.Gly1736=)	CIT	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1246883	NM_001206999.2(CIT):c.5169T>A (p.Ile1723=)	CIT	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 782567	NM_001206999.2(CIT):c.5167A>G (p.Ile1723Val)	CIT (I1681V +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign

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