37261[HGNC] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2579172	GRCh38/hg38 4p16.3-11(chr4:1-49062177)x3	LOC123477714, LOC123477715 +1267 more	Copy number gain	Neurodevelopmental disorder	GPathogenic
Select item 148186	GRCh38/hg38 4p16.3-12(chr4:36424-47491595)x3	LOC129992145, LOC129992146 +1209 more	Copy number gain	See cases	GPathogenic
Select item 144195	GRCh38/hg38 4p16.3-14(chr4:72555-39477144)x3	ABLIM2, ACOX3 +1039 more	Copy number gain	See cases	GPathogenic
Select item 58015	GRCh38/hg38 4p16.3-14(chr4:85149-38700366)x3	SOD3, SORCS2 +987 more	Copy number gain	See cases	GPathogenic
Select item 2579174	GRCh38/hg38 4p16.3-q12(chr4:85624-57073230)x3	LOC129992561, LOC129992562 +1409 more	Copy number gain	Neurodevelopmental disorder	GPathogenic
Select item 2579173	GRCh38/hg38 4p16.3-13(chr4:2904667-42963232)x3	LOC129992261, LOC129992262 +962 more	Copy number gain	Neurodevelopmental disorder	GPathogenic
Select item 2445987	GRCh38/hg38 4p15.33-14(chr4:11399082-38137335)	FGFBP1, LOC126806998 +393 more	Copy number loss	4p partial monosomy syndrome	GPathogenic
Select item 242990	NM_001170700.3(DTHD1):c.256T>C (p.Cys86Arg)	DTHD1 (M1T +1 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2002550	NM_001170700.3(DTHD1):c.257G>A (p.Cys86Tyr)	DTHD1 (C86Y +1 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 1145720	NM_001170700.3(DTHD1):c.263C>T (p.Ser88Leu)	DTHD1 (S88L)	Single nucleotide variant (synonymous variant +2 more)	DTHD1-related disorder +1 more	GLikely benign
Select item 1034939	NM_001170700.3(DTHD1):c.264G>A (p.Ser88=)	DTHD1 (E4K)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2105507	NM_001170700.3(DTHD1):c.268A>C (p.Lys90Gln)	DTHD1 (K5T +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2125651	NM_001170700.3(DTHD1):c.271+2C>G	DTHD1	Single nucleotide variant (splice donor variant)	not provided	GUncertain significance
Select item 1167709	NM_001170700.3(DTHD1):c.271+18dup	DTHD1	Duplication (intron variant)	not provided	GBenign
Select item 1576914	NM_001170700.3(DTHD1):c.271+18del	DTHD1	Deletion (intron variant)	not provided	GBenign
Select item 1545834	NM_001170700.3(DTHD1):c.271+18T>C	DTHD1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1931248	NM_001170700.3(DTHD1):c.271+20G>C	DTHD1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1898984	NM_001170700.3(DTHD1):c.271+20G>T	DTHD1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3086057	NM_001170700.3(DTHD1):c.392C>T (p.Thr131Ile)	DTHD1 (T131I)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2256258	NM_001170700.3(DTHD1):c.425C>G (p.Thr142Ser)	DTHD1 (T142S)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2517108	NM_001170700.3(DTHD1):c.468A>G (p.Ile156Met)	DTHD1 (I156M)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3086054	NM_001170700.3(DTHD1):c.491C>A (p.Thr164Lys)	DTHD1 (T164K)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3039191	NM_001170700.3(DTHD1):c.501G>A (p.Glu167=)	DTHD1	Single nucleotide variant (synonymous variant +2 more)	DTHD1-related disorder	GLikely benign
Select item 2488026	NM_001170700.3(DTHD1):c.520C>A (p.Gln174Lys)	DTHD1 (Q174K)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3086058	NM_001170700.3(DTHD1):c.587C>T (p.Ser196Leu)	DTHD1 (S196L)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3086059	NM_001170700.3(DTHD1):c.598C>T (p.Arg200Cys)	DTHD1 (R200C)	Single nucleotide variant (missense variant +2 more)	not specified	GLikely benign
Select item 3086061	NM_001170700.3(DTHD1):c.608G>T (p.Gly203Val)	DTHD1 (G203V)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2612741	NM_001170700.3(DTHD1):c.638C>T (p.Pro213Leu)	DTHD1 (P213L)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2220902	NM_001170700.3(DTHD1):c.679A>G (p.Met227Val)	DTHD1 (M227V)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3086063	NM_001170700.3(DTHD1):c.724A>G (p.Ile242Val)	DTHD1 (I242V)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2913290	NM_001170700.3(DTHD1):c.888-16C>A	DTHD1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1128356	NM_001170700.3(DTHD1):c.888-8C>T	DTHD1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1417262	NM_001170700.3(DTHD1):c.888-7C>G	DTHD1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2144620	NM_001170700.3(DTHD1):c.888-4C>T	DTHD1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1509302	NM_001170700.3(DTHD1):c.893T>C (p.Leu298Pro)	DTHD1 (L298P +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1433865	NM_001170700.3(DTHD1):c.902T>C (p.Leu301Pro)	DTHD1 (L11P +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1166270	NM_001170700.3(DTHD1):c.902T>A (p.Leu301Gln)	DTHD1 (L11Q +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GBenign
Select item 2150032	NM_001170700.3(DTHD1):c.903G>A (p.Leu301=)	DTHD1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3053785	NM_001170700.3(DTHD1):c.910G>A (p.Val304Ile)	DTHD1 (V14I +1 more)	Single nucleotide variant (missense variant +1 more)	DTHD1-related disorder	GLikely benign
Select item 936013	NM_001170700.3(DTHD1):c.910_911delinsAA (p.Val304Asn)	DTHD1 (V14N +1 more)	Indel (missense variant +1 more)	not provided	GUncertain significance
Select item 2886980	NM_001170700.3(DTHD1):c.911_912delinsAC (p.Val304Asp)	DTHD1 (V14D +1 more)	Indel (missense variant +1 more)	not provided	GLikely benign
Select item 1166644	NM_001170700.3(DTHD1):c.911T>A (p.Val304Asp)	DTHD1 (V14D +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 1169021	NM_001170700.3(DTHD1):c.926T>G (p.Val309Gly)	DTHD1 (V19G +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 1630644	NM_001170700.3(DTHD1):c.933T>C (p.Cys311=)	DTHD1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1354729	NM_001170700.3(DTHD1):c.946C>G (p.Pro316Ala)	DTHD1 (P26A +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2074468	NM_001170700.3(DTHD1):c.950C>T (p.Ser317Leu)	DTHD1 (S317L +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1053647	NM_001170700.3(DTHD1):c.951A>G (p.Ser317=)	DTHD1	Single nucleotide variant (synonymous variant +1 more)	not provided	GUncertain significance
Select item 2336822	NM_001170700.3(DTHD1):c.952T>C (p.Tyr318His)	DTHD1 (Y28H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1509303	NM_001170700.3(DTHD1):c.955G>C (p.Val319Leu)	DTHD1 (V319L +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2135222	NM_001170700.3(DTHD1):c.959T>C (p.Leu320Pro)	DTHD1 (L30P +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2109090	NM_001170700.3(DTHD1):c.972del (p.Glu324fs)	DTHD1 (E324fs +1 more)	Deletion (frameshift variant +1 more)	not provided	GUncertain significance
Select item 1414337	NM_001170700.3(DTHD1):c.972A>T (p.Glu324Asp)	DTHD1 (E324D +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2120925	NM_001170700.3(DTHD1):c.975C>A (p.Cys325Ter)	DTHD1 (C35* +1 more)	Single nucleotide variant (nonsense +1 more)	not provided	GUncertain significance
Select item 1091362	NM_001170700.3(DTHD1):c.975C>T (p.Cys325=)	DTHD1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3086064	NM_001170700.3(DTHD1):c.976C>T (p.Arg326Trp)	DTHD1 (R36W +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2719987	NM_001170700.3(DTHD1):c.976C>A (p.Arg326=)	DTHD1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1018498	NM_001170700.3(DTHD1):c.977G>A (p.Arg326Gln)	DTHD1 (R326Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GUncertain significance
Select item 1461800	NM_001170700.3(DTHD1):c.980T>A (p.Ile327Lys)	DTHD1 (I37K +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2287716	NM_001170700.3(DTHD1):c.983T>C (p.Ile328Thr)	DTHD1 (I328T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2103654	NM_001170700.3(DTHD1):c.991_992del (p.Met331fs)	DTHD1 (M41fs +1 more)	Deletion (frameshift variant +1 more)	not provided	GUncertain significance
Select item 2119010	NM_001170700.3(DTHD1):c.1006G>C (p.Val336Leu)	DTHD1 (V336L +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2085881	NM_001170700.3(DTHD1):c.1006G>T (p.Val336Leu)	DTHD1 (V46L +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1503803	NM_001170700.3(DTHD1):c.1007T>C (p.Val336Ala)	DTHD1 (V46A +1 more)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GUncertain significance
Select item 2063211	NM_001170700.3(DTHD1):c.1009G>A (p.Gly337Ser)	DTHD1 (G47S +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1504177	NM_001170700.3(DTHD1):c.1010G>A (p.Gly337Asp)	DTHD1 (G47D +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 852218	NM_001170700.3(DTHD1):c.1012G>T (p.Asp338Tyr)	DTHD1 (D338Y +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1388438	NM_001170700.3(DTHD1):c.1015A>G (p.Asn339Asp)	DTHD1 (N339D +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 1466970	NM_001170700.3(DTHD1):c.1019A>G (p.Glu340Gly)	DTHD1 (E340G +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1425675	NM_001170700.3(DTHD1):c.1028_1031del (p.Val343fs)	DTHD1 (V53fs +1 more)	Microsatellite (frameshift variant +1 more)	not provided	GUncertain significance
Select item 1983344	NM_001170700.3(DTHD1):c.1025T>G (p.Leu342Ter)	DTHD1 (L342* +1 more)	Single nucleotide variant (nonsense +1 more)	not provided	GUncertain significance
Select item 1671860	NM_001170700.3(DTHD1):c.1035C>T (p.Asn345=)	DTHD1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1486199	NM_001170700.3(DTHD1):c.1036G>T (p.Val346Phe)	DTHD1 (V346F +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1547674	NM_001170700.3(DTHD1):c.1044T>A (p.Thr348=)	DTHD1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1493209	NM_001170700.3(DTHD1):c.1045A>G (p.Ile349Val)	DTHD1 (I349V +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1717746	NM_001170700.3(DTHD1):c.1046T>C (p.Ile349Thr)	DTHD1 (I349T +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1105613	NM_001170700.3(DTHD1):c.1047T>C (p.Ile349=)	DTHD1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2272002	NM_001170700.3(DTHD1):c.1049A>C (p.Glu350Ala)	DTHD1 (E350A +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 2008611	NM_001170700.3(DTHD1):c.1051T>A (p.Cys351Ser)	DTHD1 (C61S +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 964342	NM_001170700.3(DTHD1):c.1058A>G (p.Asp353Gly)	DTHD1 (D353G +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1082734	NM_001170700.3(DTHD1):c.1077A>G (p.Pro359=)	DTHD1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1037365	NM_001170700.3(DTHD1):c.1078T>C (p.Phe360Leu)	DTHD1 (F360L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GUncertain significance
Select item 1559235	NM_001170700.3(DTHD1):c.1080T>C (p.Phe360=)	DTHD1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1447970	NM_001170700.3(DTHD1):c.1085T>C (p.Ile362Thr)	DTHD1 (I362T +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2010376	NM_001170700.3(DTHD1):c.1091T>C (p.Ile364Thr)	DTHD1 (I364T +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2014398	NM_001170700.3(DTHD1):c.1094C>A (p.Ala365Glu)	DTHD1 (A365E +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1417889	NM_001170700.3(DTHD1):c.1111C>T (p.Arg371Cys)	DTHD1 (R371C +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1167513	NM_001170700.3(DTHD1):c.1112G>A (p.Arg371His)	DTHD1 (R371H +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GBenign/Likely benign
Select item 998854	NM_001170700.3(DTHD1):c.1118G>T (p.Arg373Ile)	DTHD1 (R373I +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 852308	NM_001170700.3(DTHD1):c.1137_1139del (p.Ile379del)	DTHD1 (I379del +1 more)	Deletion (inframe_deletion +1 more)	not provided	GUncertain significance
Select item 1384986	NM_001170700.3(DTHD1):c.1136T>G (p.Ile379Ser)	DTHD1 (I379S +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1011879	NM_001170700.3(DTHD1):c.1139T>C (p.Met380Thr)	DTHD1 (M380T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GUncertain significance
Select item 2393466	NM_001170700.3(DTHD1):c.1147G>C (p.Val383Leu)	DTHD1 (V383L +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 1714019	NM_001170700.3(DTHD1):c.1154A>C (p.Asp385Ala)	DTHD1 (D385A +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 959139	NM_001170700.3(DTHD1):c.1154A>G (p.Asp385Gly)	DTHD1 (D95G +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2140287	NM_001170700.3(DTHD1):c.1155C>T (p.Asp385=)	DTHD1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2796828	NM_001170700.3(DTHD1):c.1158A>G (p.Ile386Met)	DTHD1 (I386M +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1906289	NM_001170700.3(DTHD1):c.1161C>T (p.Asn387=)	DTHD1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1058692	NM_001170700.3(DTHD1):c.1165C>T (p.Gln389Ter)	DTHD1 (Q389* +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 1139352	NM_001170700.3(DTHD1):c.1176C>T (p.Tyr392=)	DTHD1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1532997	NM_001170700.3(DTHD1):c.1177C>T (p.Leu393=)	DTHD1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign

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