189[HGNC] - ClinVar

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Items: 57

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 148363	GRCh38/hg38 17q23.1-25.1(chr17:36449220-75053130)x3	AARSD1, AATF +2032 more	Copy number gain	See cases	GPathogenic
Select item 57282	GRCh38/hg38 17q21.33-24.2(chr17:36449220-68170214)x3	LOC126862582, LOC126862583 +1753 more	Copy number gain	See cases	GPathogenic
Select item 58696	GRCh38/hg38 17q12-21.31(chr17:39199873-45629579)x3	LOC130060786, LOC130060787 +633 more	Copy number gain	See cases	GPathogenic
Select item 59586	GRCh38/hg38 17q21.31(chr17:43570878-44762377)x1	ADAM11, ASB16 +104 more	Copy number loss	See cases	GPathogenic
Select item 145615	GRCh38/hg38 17q21.31(chr17:43934167-44854025)x1	ADAM11, ASB16 +86 more	Copy number loss	See cases	GPathogenic
Select item 3143907	NM_002390.6(ADAM11):c.21G>C (p.Trp7Cys)	ADAM11 (W7C)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3143928	NM_002390.6(ADAM11):c.52C>T (p.Pro18Ser)	ADAM11 (P18S)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2385023	NM_002390.6(ADAM11):c.85G>A (p.Gly29Arg)	ADAM11 (G29R)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2298319	NM_002390.6(ADAM11):c.100G>C (p.Gly34Arg)	ADAM11 (G34R)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GLikely benign
Select item 2350625	NM_002390.6(ADAM11):c.103G>T (p.Gly35Cys)	ADAM11 (G35C)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 780429	NM_002390.6(ADAM11):c.105C>T (p.Gly35=)	ADAM11	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GBenign
Select item 2471712	NM_002390.6(ADAM11):c.215G>A (p.Arg72His)	ADAM11 (R72H)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2399100	NM_002390.6(ADAM11):c.265G>A (p.Val89Ile)	ADAM11 (V89I)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3143914	NM_002390.6(ADAM11):c.355C>T (p.Arg119Trp)	ADAM11 (R119W)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3143917	NM_002390.6(ADAM11):c.414G>T (p.Lys138Asn)	ADAM11 (K138N)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2401979	NM_002390.6(ADAM11):c.442G>A (p.Ala148Thr)	ADAM11 (A148T)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3143922	NM_002390.6(ADAM11):c.499A>G (p.Ile167Val)	ADAM11 (I167V)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2545806	NM_002390.6(ADAM11):c.533G>A (p.Gly178Glu)	ADAM11 (G178E)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GLikely benign
Select item 3143934	NM_002390.6(ADAM11):c.554C>T (p.Pro185Leu)	ADAM11 (P185L)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2533460	NM_002390.6(ADAM11):c.568C>T (p.Arg190Trp)	ADAM11 (R190W)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2412090	NM_002390.6(ADAM11):c.572C>T (p.Thr191Ile)	ADAM11 (T191I)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2329006	NM_002390.6(ADAM11):c.595G>A (p.Gly199Arg)	ADAM11 (G199R)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3265264	NM_002390.6(ADAM11):c.640G>A (p.Ala214Thr)	ADAM11 (A214T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2353933	NM_002390.6(ADAM11):c.640G>T (p.Ala214Ser)	ADAM11 (G15V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2527486	NM_002390.6(ADAM11):c.653G>C (p.Arg218Pro)	ADAM11 (R218P)	Single nucleotide variant (synonymous variant +1 more)	not specified	GUncertain significance
Select item 2530461	NM_002390.6(ADAM11):c.851G>A (p.Arg284His)	ADAM11 (R84H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2231613	NM_002390.6(ADAM11):c.856G>A (p.Val286Ile)	ADAM11 (V286I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2530819	NM_002390.6(ADAM11):c.868A>G (p.Met290Val)	ADAM11 (M90V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 740790	NM_002390.6(ADAM11):c.873A>G (p.Glu291=)	ADAM11	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3143959	NM_002390.6(ADAM11):c.908A>G (p.Asp303Gly)	ADAM11 (D103G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2456866	NM_002390.6(ADAM11):c.931C>T (p.Arg311Trp)	ADAM11 (R111W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2379559	NM_002390.6(ADAM11):c.932G>A (p.Arg311Gln)	ADAM11 (R111Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2251525	NM_002390.6(ADAM11):c.937A>G (p.Met313Val)	ADAM11 (M113V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3143841	NM_002390.6(ADAM11):c.1181G>A (p.Cys394Tyr)	ADAM11 (C394Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3265254	NM_002390.6(ADAM11):c.1525G>A (p.Glu509Lys)	ADAM11 (E309K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3143842	NM_002390.6(ADAM11):c.1628A>C (p.Tyr543Ser)	ADAM11 (Y543S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3265259	NM_002390.6(ADAM11):c.1645A>T (p.Thr549Ser)	ADAM11 (T349S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2367603	NM_002390.6(ADAM11):c.1654C>T (p.Arg552Trp)	ADAM11 (R352W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2463036	NM_002390.6(ADAM11):c.1655G>A (p.Arg552Gln)	ADAM11 (R352Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2550468	NM_002390.6(ADAM11):c.1666G>A (p.Val556Ile)	ADAM11 (V356I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2483411	NM_002390.6(ADAM11):c.1679A>G (p.His560Arg)	ADAM11 (H360R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3143859	NM_002390.6(ADAM11):c.1682C>T (p.Ala561Val)	ADAM11 (A361V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2307361	NM_002390.6(ADAM11):c.1825G>A (p.Ala609Thr)	ADAM11 (A409T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2515185	NM_002390.6(ADAM11):c.1969C>T (p.Pro657Ser)	ADAM11 (P457S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2316217	NM_002390.6(ADAM11):c.2035G>A (p.Gly679Ser)	ADAM11 (G679S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2294097	NM_002390.6(ADAM11):c.2048G>A (p.Arg683His)	ADAM11 (R483H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2256049	NM_002390.6(ADAM11):c.2101C>G (p.Gln701Glu)	ADAM11 (Q701E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3235865	NM_002390.6(ADAM11):c.2109C>G (p.Asp703Glu)	ADAM11 (D503E +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2366595	NM_002390.6(ADAM11):c.2150C>T (p.Thr717Met)	ADAM11 (T517M +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2510262	NM_002390.6(ADAM11):c.2153C>T (p.Ser718Phe)	ADAM11 (S718F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3143901	NM_002390.6(ADAM11):c.2165G>A (p.Gly722Glu)	ADAM11 (G522E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3242218	Single allele	ABCC3, ABI3 +196 more	Deletion	Breast-ovarian cancer, familial, susceptibility to, 1	GPathogenic
Select item 3242217	GRCh37/hg19 17q12-22(chr17:41196270-41277589)	AARSD1, AATF +422 more	Copy number loss	Breast-ovarian cancer, familial, susceptibility to, 1	GPathogenic
Select item 442257	GRCh37/hg19 17q21.31(chr17:42649083-43659985)x3	ACBD4, ADAM11 +20 more	Copy number gain	See cases	GUncertain significance
Select item 441816	GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)x3	ALOX12, ALOX12B +1143 more	Copy number gain	See cases	GPathogenic
Select item 441815	GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)	SPEM2, TBCD +1143 more	Copy number gain	See cases	GPathogenic
Select item 395646	GRCh37/hg19 17q21.31-25.3(chr17:42580684-81085615)x3	AANAT, AATK +458 more	Copy number gain	See cases	GPathogenic

ClinVar

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Items: 57