3176[HGNC] - ClinVar

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Items: 72

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58124	GRCh38/hg38 6p25.3-22.3(chr6:106431-18360595)x3	ADTRP, ATXN1 +823 more	Copy number gain	See cases	GPathogenic
Select item 155267	GRCh38/hg38 6p25.3-23(chr6:152634-14417003)x3	LOC129995555, LOC129995556 +641 more	Copy number gain	See cases	GPathogenic
Select item 151603	GRCh38/hg38 6p25.3-22.3(chr6:155807-17058414)x3	LOC129995829, LOC129995830 +777 more	Copy number gain	See cases	GPathogenic
Select item 155715	GRCh38/hg38 6p25.3-23(chr6:156974-13855925)x1	ADTRP, BLOC1S5 +610 more	Copy number loss	See cases	GPathogenic
Select item 155631	GRCh38/hg38 6p25.3-24.1(chr6:156974-13081201)x3	LOC129995745, LOC129995746 +557 more	Copy number gain	See cases	GLikely pathogenic
Select item 155430	GRCh38/hg38 6p25.3-12.3(chr6:156974-46789291)x3	ANKRD66, C6orf201 +2580 more	Copy number gain	See cases	GPathogenic
Select item 144540	GRCh38/hg38 6p25.3-24.1(chr6:164360-13339881)x3	SERPINB9-AS1, SLC22A23 +571 more	Copy number gain	See cases	GPathogenic
Select item 58150	GRCh38/hg38 6p25.3-23(chr6:389423-13474956)x3	LOC126859578, LOC126859579 +536 more	Copy number gain	See cases	GPathogenic
Select item 154368	GRCh38/hg38 6p25.2-22.3(chr6:2862640-16697788)x1	ADTRP, ATXN1 +617 more	Copy number loss	See cases	GPathogenic
Select item 150044	GRCh38/hg38 6p25.2-21.33(chr6:3224310-30657190)x3	ABCF1, ABT1 +1340 more	Copy number gain	See cases	GPathogenic
Select item 146906	GRCh38/hg38 6p25.2-24.1(chr6:4068792-13267799)x1	LOC129995677, LOC129995678 +331 more	Copy number loss	See cases	GPathogenic
Select item 154343	GRCh38/hg38 6p24.2-23(chr6:10601499-13987316)x1	ADTRP, C6orf52 +154 more	Copy number loss	See cases	GPathogenic
Select item 1707465	Single allele	ADTRP, EDN1 +47 more	Duplication	not specified	GUncertain significance
Select item 2236308	NM_001955.5(EDN1):c.46C>A (p.Gln16Lys)	EDN1 (Q16K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 776110	NM_001955.5(EDN1):c.64+8C>T	EDN1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1231510	NM_001955.5(EDN1):c.64+186T>C	EDN1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1232026	NM_001955.5(EDN1):c.65-46G>A	EDN1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2167906	NM_001955.5(EDN1):c.78T>G (p.Ala26=)	EDN1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3087196	NM_001955.5(EDN1):c.89C>T (p.Ala30Val)	EDN1 (A30V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2454688	NM_001955.5(EDN1):c.89C>A (p.Ala30Glu)	EDN1 (A29E +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3038961	NM_001955.5(EDN1):c.90G>T (p.Ala30=)	EDN1	Single nucleotide variant (synonymous variant)	EDN1-related disorder	GLikely benign
Select item 716454	NM_001955.5(EDN1):c.90G>A (p.Ala30=)	EDN1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 730189	NM_001955.5(EDN1):c.106G>A (p.Gly36Arg)	EDN1 (G35R +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2270564	NM_001955.5(EDN1):c.137G>T (p.Arg46Leu)	EDN1 (R46L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 712585	NM_001955.5(EDN1):c.141C>T (p.Leu47=)	EDN1	Single nucleotide variant (synonymous variant)	EDN1-related disorder +1 more	GBenign
Select item 2173499	NM_001955.5(EDN1):c.168G>A (p.Ser56=)	EDN1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 592103	NM_001955.5(EDN1):c.184G>C (p.Glu62Gln)	EDN1 (E62Q +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 424102	NM_001955.5(EDN1):c.188G>A (p.Cys63Tyr)	EDN1 (C63Y +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 120214	NM_001955.5(EDN1):c.191T>A (p.Val64Asp)	EDN1 (V64D +1 more)	Single nucleotide variant (missense variant)	Question mark ears, isolated	GPathogenic
Select item 120213	NM_001955.5(EDN1):c.230C>A (p.Pro77His)	EDN1 (P77H +1 more)	Single nucleotide variant (missense variant)	Auriculocondylar syndrome 3	GPathogenic
Select item 3058535	NM_001955.5(EDN1):c.231C>T (p.Pro77=)	EDN1	Single nucleotide variant (synonymous variant)	EDN1-related disorder	GLikely benign
Select item 1274781	NM_001955.5(EDN1):c.233+30G>T	EDN1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1222387	NM_001955.5(EDN1):c.234-37T>C	EDN1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3020086	NM_001955.5(EDN1):c.234-18TC[2]	EDN1	Microsatellite (intron variant)	not provided	GBenign
Select item 757570	NM_001955.5(EDN1):c.238G>A (p.Val80Ile)	EDN1 (V80I +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 799507	NM_001955.5(EDN1):c.246G>A (p.Pro82=)	EDN1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 120215	NM_001955.5(EDN1):c.249T>G (p.Tyr83Ter)	EDN1 (Y83* +1 more)	Single nucleotide variant (nonsense)	Question mark ears, isolated	GPathogenic
Select item 120212	NM_001955.5(EDN1):c.271A>G (p.Lys91Glu)	EDN1 (K91E +1 more)	Single nucleotide variant (missense variant)	Auriculocondylar syndrome 3	GPathogenic
Select item 1255370	NM_001955.5(EDN1):c.318A>G (p.Glu106=)	EDN1	Single nucleotide variant (synonymous variant)	Auriculocondylar syndrome 3 +1 more	GBenign
Select item 2264215	NM_001955.5(EDN1):c.322A>G (p.Arg108Gly)	EDN1 (R108G +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2055751	NM_001955.5(EDN1):c.354G>C (p.Lys118Asn)	EDN1 (K117N +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2610928	NM_001955.5(EDN1):c.376G>A (p.Gly126Arg)	EDN1 (G126R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3087194	NM_001955.5(EDN1):c.404T>C (p.Met135Thr)	EDN1 (M134T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2554357	NM_001955.5(EDN1):c.464G>A (p.Cys155Tyr)	EDN1 (C155Y +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 748264	NM_001955.5(EDN1):c.480A>C (p.Leu160Phe)	EDN1 (L160F +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2556032	NM_001955.5(EDN1):c.487G>A (p.Gly163Arg)	EDN1 (G162R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 445411	NM_001955.5(EDN1):c.517C>A (p.His173Asn)	EDN1 (H173N +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1988238	NM_001955.5(EDN1):c.533+15A>G	EDN1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1238796	NM_001955.5(EDN1):c.534-208C>T	EDN1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1250334	NM_001955.5(EDN1):c.534-192A>G	EDN1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1294754	NM_001955.5(EDN1):c.534-38dup	EDN1	Duplication (intron variant)	not provided	GBenign
Select item 2396993	NM_001955.5(EDN1):c.534G>T (p.Arg178Ser)	EDN1 (R177S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2053031	NM_001955.5(EDN1):c.556G>A (p.Val186Ile)	EDN1 (V185I +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 16652	NM_001955.5(EDN1):c.594G>T (p.Lys198Asn)	EDN1 (K198N +1 more)	Single nucleotide variant (missense variant)	Auriculocondylar syndrome 3 +1 more	GBenign
Select item 3087195	NM_001955.5(EDN1):c.607C>T (p.Arg203Cys)	EDN1 (R203C +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2191668	NM_001955.5(EDN1):c.608G>A (p.Arg203His)	EDN1 (R203H +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2327432	NM_001955.5(EDN1):c.617C>G (p.Thr206Ser)	EDN1 (T205S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2684439	GRCh37/hg19 6p25.3-22.3(chr6:156975-15478095)x3	ADTRP, BLOC1S5 +73 more	Copy number gain	not provided	GPathogenic
Select item 1810398	GRCh37/hg19 6p25.3-22.3(chr6:820000-21700000)x3	ADTRP, ATXN1 +89 more	Copy number gain	See cases	GPathogenic
Select item 1809386	GRCh37/hg19 6p24.1-22.3(chr6:12005630-22849647)x1	ATXN1, CAP2 +32 more	Copy number loss	not provided	GPathogenic
Select item 1527220	GRCh37/hg19 6p24.3-22.3(chr6:8269414-17402660)	RBM24, RNF182 +35 more	Copy number gain	not specified	GLikely pathogenic
Select item 1511468	NC_000006.11:g.(?_12290863)_(13612097_?)dup	SIRT5, TBC1D7 +3 more	Duplication	not provided	GUncertain significance
Select item 979717	GRCh37/hg19 6p24.1(chr6:11881588-12570991)x3	EDN1, HIVEP1	Copy number gain	not provided	GUncertain significance
Select item 814789	GRCh37/hg19 6p24.1(chr6:11957257-12556338)x3	EDN1, HIVEP1	Copy number gain	not provided	GUncertain significance
Select item 687409	GRCh37/hg19 6p25.3-22.3(chr6:156974-23221621)x3	ADTRP, ATXN1 +95 more	Copy number gain	not provided	GPathogenic
Select item 563140	GRCh37/hg19 6p25.3-22.3(chr6:156974-21955964)x3	ADTRP, ATXN1 +93 more	Copy number gain	not provided	GPathogenic
Select item 563139	GRCh37/hg19 6p25.3-23(chr6:156974-13502033)x3	ADTRP, BLOC1S5 +66 more	Copy number gain	not provided	GPathogenic
Select item 560067	Single allele	ADTRP, ATXN1 +95 more	Duplication	not provided	GPathogenic
Select item 443497	GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)	TAAR8, TAAR9 +1028 more	Copy number gain	See cases	GPathogenic
Select item 443496	GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)x3	VPS52, VTA1 +1028 more	Copy number gain	See cases	GPathogenic
Select item 253526	GRCh37/hg19 6p25.3-22.3(chr6:168775-24023234)x3	STMND1, SYCP2L +95 more	Copy number gain	See cases	GPathogenic
Select item 253430	GRCh37/hg19 6p25.1-22.3(chr6:5354402-17950079)x1	ADTRP, ATXN1 +51 more	Copy number loss	See cases	GPathogenic

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Items: 72