17664[HGNC] - ClinVar

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Items: 45

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 154258	GRCh38/hg38 3q11.1-24(chr3:93800620-145695381)x3	PDIA5, PHLDB2 +1344 more	Copy number gain	See cases	GPathogenic
Select item 145994	GRCh38/hg38 3q11.1-13.31(chr3:93819623-116887056)x1	ABHD10, ABI3BP +431 more	Copy number loss	See cases	GPathogenic
Select item 57803	GRCh38/hg38 3q11.1-21.1(chr3:93886671-123216683)x1	TRAT1, TRMT10C +638 more	Copy number loss	See cases	GPathogenic
Select item 2579175	GRCh38/hg38 3q11.1-21.2(chr3:93979547-124774010)x1	CCDC54-AS1, LOC123002328 +682 more	Copy number loss	Chromosome 3q13.31 deletion syndrome	GPathogenic
Select item 149128	GRCh38/hg38 3q11.2-13.31(chr3:97795369-115663349)x1	ABHD10, ABI3BP +398 more	Copy number loss	See cases	GPathogenic
Select item 145614	GRCh38/hg38 3q13.11-29(chr3:103426882-198110178)x3	LOC115995524, LOC115995525 +2647 more	Copy number gain	See cases	GPathogenic
Select item 57980	GRCh38/hg38 3q13.11-13.31(chr3:104621220-116093884)x3	LOC132088858, LOC132088860 +248 more	Copy number gain	See cases	GPathogenic
Select item 57804	GRCh38/hg38 3q13.13-13.31(chr3:108242572-116169331)x1	ABHD10, ATG3 +186 more	Copy number loss	See cases	GPathogenic
Select item 3044674	NM_015480.3(NECTIN3):c.-10A>T	NECTIN3	Single nucleotide variant (5 prime UTR variant)	NECTIN3-related disorder	GLikely benign
Select item 1282802	NM_015480.3(NECTIN3):c.15G>A (p.Leu5=)	NECTIN3	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 3048951	NM_015480.3(NECTIN3):c.64G>A (p.Ala22Thr)	NECTIN3 (A22T)	Single nucleotide variant (missense variant +1 more)	NECTIN3-related disorder	GBenign
Select item 3052150	NM_015480.3(NECTIN3):c.73C>G (p.Leu25Val)	NECTIN3 (L25V)	Single nucleotide variant (missense variant +1 more)	NECTIN3-related disorder	GBenign
Select item 3045238	NM_015480.3(NECTIN3):c.133C>T (p.Pro45Ser)	NECTIN3 (P45S)	Single nucleotide variant (missense variant +1 more)	NECTIN3-related disorder	GBenign
Select item 3039535	NM_015480.3(NECTIN3):c.138G>A (p.Leu46=)	NECTIN3	Single nucleotide variant (synonymous variant +1 more)	NECTIN3-related disorder	GLikely benign
Select item 1263814	NM_015480.3(NECTIN3):c.160+89A>G	NECTIN3	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GBenign
Select item 1255168	NM_015480.3(NECTIN3):c.161-130TG[13]	NECTIN3	Microsatellite (intron variant)	not provided	GBenign
Select item 1239159	NM_015480.3(NECTIN3):c.161-130TG[12]	NECTIN3	Microsatellite (intron variant)	not provided	GBenign
Select item 1180040	NM_015480.3(NECTIN3):c.161-130TG[14]	NECTIN3	Microsatellite (intron variant)	not provided	GBenign
Select item 2259614	NM_015480.3(NECTIN3):c.283C>T (p.His95Tyr)	NECTIN3 (H72Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2403691	NM_015480.3(NECTIN3):c.601G>A (p.Val201Ile)	NECTIN3 (V178I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2393241	NM_015480.3(NECTIN3):c.702T>A (p.Phe234Leu)	NECTIN3 (F234L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 252951	NM_015480.3(NECTIN3):c.886A>C (p.Asn296His)	NECTIN3 (N273H +1 more)	Single nucleotide variant (missense variant)	NECTIN3-related disorder +1 more	GConflicting classifications of pathogenicity
Select item 1231758	NM_015480.3(NECTIN3):c.918-255C>T	NECTIN3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3038007	NM_015480.3(NECTIN3):c.957C>T (p.Asp319=)	NECTIN3	Single nucleotide variant (synonymous variant)	NECTIN3-related disorder	GLikely benign
Select item 3035283	NM_015480.3(NECTIN3):c.1161G>A (p.Leu387=)	NECTIN3	Single nucleotide variant (3 prime UTR variant +2 more)	NECTIN3-related disorder	GLikely benign
Select item 3035252	NM_015480.3(NECTIN3):c.1225G>A (p.Val409Ile)	NECTIN3 (V409I)	Single nucleotide variant (3 prime UTR variant +2 more)	NECTIN3-related disorder	GLikely benign
Select item 2255799	NM_015480.3(NECTIN3):c.1645G>A (p.Val549Ile)	NECTIN3 (V549I)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 1238252	NM_001243288.2(NECTIN3):c.1110A>C (p.Arg370=)	NECTIN3	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1232214	NM_001243288.2(NECTIN3):c.1139+93G>A	NECTIN3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1231919	NM_001243288.2(NECTIN3):c.1221+106G>A	NECTIN3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1240433	NM_001243288.2(NECTIN3):c.1222-114del	NECTIN3	Deletion (intron variant)	not provided	GBenign
Select item 3038574	NM_001243288.2(NECTIN3):c.1273C>A (p.Leu425Ile)	NECTIN3 (L425I)	Single nucleotide variant (missense variant)	NECTIN3-related disorder	GBenign
Select item 1236850	NM_001243288.2(NECTIN3):c.1285-210A>T	NECTIN3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1252378	NM_001243288.2(NECTIN3):c.1285-71G>A	NECTIN3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3033881	NM_001243288.2(NECTIN3):c.1373A>T (p.Gln458Leu)	NECTIN3 (Q458L)	Single nucleotide variant (missense variant)	NECTIN3-related disorder	GLikely benign
Select item 3041440	NM_001243288.2(NECTIN3):c.1390C>T (p.Arg464Trp)	NECTIN3 (R464W)	Single nucleotide variant (missense variant)	NECTIN3-related disorder	GLikely benign
Select item 2685090	GRCh37/hg19 3q13.13-13.31(chr3:110398276-113879363)x1	ABHD10, ATG3 +31 more	Copy number loss	not provided	GUncertain significance
Select item 1807773	GRCh37/hg19 3q13.12-13.31(chr3:107059705-115005256)x1	ABHD10, ATG3 +49 more	Copy number loss	not provided	GPathogenic
Select item 1703653	GRCh37/hg19 3q13.12-13.31(chr3:106598767-115704696)	ABHD10, ATG3 +51 more	Copy number loss	Chromosome 3q13.31 deletion syndrome	GPathogenic
Select item 814468	GRCh37/hg19 3q12.3-13.2(chr3:101812245-112174485)x1	ABHD10, ALCAM +29 more	Copy number loss	not provided	GPathogenic
Select item 562806	GRCh37/hg19 3q13.13-13.2(chr3:110719980-111389974)x3	NECTIN3-AS1, ZBED2 +2 more	Copy number gain	not provided	GUncertain significance
Select item 562805	GRCh37/hg19 3q13.13-13.31(chr3:110645295-115103586)x1	ABHD10, ATG3 +34 more	Copy number loss	not provided	GPathogenic
Select item 442401	GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)x3	HHLA2, HIGD1A +1054 more	Copy number gain	See cases	GPathogenic
Select item 442400	GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)	A4GNT, AADAC +1054 more	Copy number gain	See cases	GPathogenic
Select item 393800	GRCh37/hg19 3q13.11-13.32(chr3:105094834-117441953)x1	ABHD10, ALCAM +53 more	Copy number loss	See cases	GPathogenic

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Items: 45