ClinVar for Gene (Select 9450) - ClinVar

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Links from Gene

Items: 45

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3121634	NM_004271.4(LY86):c.357G>T (p.Gln119His)	LY86 (Q119H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3121633	NM_004271.4(LY86):c.356A>G (p.Gln119Arg)	LY86 (Q119R)	Single nucleotide variant (missense variant)	not specified	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 2560932	NM_004271.4(LY86):c.446G>C (p.Arg149Pro)	LY86 (R149P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2531192	NM_004271.4(LY86):c.109G>A (p.Gly37Ser)	LY86, LY86-AS1 (G37S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2396436	NM_004271.4(LY86):c.362A>G (p.Tyr121Cys)	LY86 (Y121C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2356836	NM_004271.4(LY86):c.445C>T (p.Arg149Trp)	LY86 (R149W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2348265	NM_004271.4(LY86):c.400C>T (p.Pro134Ser)	LY86 (P134S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2306068	NM_004271.4(LY86):c.7G>T (p.Gly3Cys)	LY86, LY86-AS1 (G3C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2248368	NM_004271.4(LY86):c.182A>C (p.Gln61Pro)	LY86 (Q61P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2246588	NM_004271.4(LY86):c.436A>G (p.Thr146Ala)	LY86 (T146A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 980201	GRCh37/hg19 6p25.1-24.3(chr6:6495789-8070987)x3	BLOC1S5, BMP6 +7 more	Copy number gain	not provided	GUncertain significance
Select item 814784	GRCh37/hg19 6p25.1-24.3(chr6:5997521-8570039)x1	BLOC1S5, BMP6 +11 more	Copy number loss	not provided	GPathogenic
Select item 782469	NM_004271.4(LY86):c.30C>T (p.Leu10=)	LY86, LY86-AS1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 717853	NM_004271.4(LY86):c.277T>C (p.Ser93Pro)	LY86 (S93P)	Single nucleotide variant (missense variant)	not provided	GBenign
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 563149	GRCh37/hg19 6p25.1-24.3(chr6:4990661-10358695)x1	BLOC1S5, BMP6 +17 more	Copy number loss	not provided	GPathogenic
Select item 563144	GRCh37/hg19 6p25.3-24.3(chr6:1860928-8884071)x3	BLOC1S5, BMP6 +38 more	Copy number gain	not provided	GLikely pathogenic
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)	AIRN, BNIP5 +1028 more	Copy number gain	See cases	GPathogenic
Select item 443496	GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)x3	PDE10A, PDE7B +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 253511	GRCh37/hg19 6p25.3-24.1(chr6:204009-11608587)x1	BLOC1S5, BMP6 +60 more	Copy number loss	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
Select item 155715	GRCh38/hg38 6p25.3-23(chr6:156974-13855925)x1	LOC129995520, LOC129995521 +610 more	Copy number loss	See cases	GPathogenic
Select item 155631	GRCh38/hg38 6p25.3-24.1(chr6:156974-13081201)x3	LOC121106426, LOC121113497 +557 more	Copy number gain	See cases	GLikely pathogenic
Select item 155430	GRCh38/hg38 6p25.3-12.3(chr6:156974-46789291)x3	CYP39A1, DAAM2 +2577 more	Copy number gain	See cases	GPathogenic
Select item 155267	GRCh38/hg38 6p25.3-23(chr6:152634-14417003)x3	LOC132089500, LOC132090749 +641 more	Copy number gain	See cases	GPathogenic
Select item 155033	GRCh38/hg38 6p25.1(chr6:6163258-6766313)x3	F13A1, LOC101928004 +19 more	Copy number gain	See cases	GUncertain significance
Select item 154368	GRCh38/hg38 6p25.2-22.3(chr6:2862640-16697788)x1	LOC129389446, LOC129389447 +617 more	Copy number loss	See cases	GPathogenic
Select item 154194	GRCh38/hg38 6p25.3-24.3(chr6:156974-7122759)x1	LOC123575649, LOC123575650 +345 more	Copy number loss	See cases	GPathogenic
Select item 154190	GRCh38/hg38 6p25.3-24.2(chr6:156974-11550817)x3	LINC02521, LINC02522 +508 more	Copy number gain	See cases	GLikely pathogenic
Select item 151603	GRCh38/hg38 6p25.3-22.3(chr6:155807-17058414)x3	LOC129995714, LOC129995715 +777 more	Copy number gain	See cases	GPathogenic
Select item 150044	GRCh38/hg38 6p25.2-21.33(chr6:3224310-30657190)x3	LOC129995913, LOC129995914 +1340 more	Copy number gain	See cases	GPathogenic
Select item 147369	GRCh38/hg38 6p25.3-24.3(chr6:163083-9525496)x3	BLOC1S5, BLOC1S5-TXNDC5 +435 more	Copy number gain	See cases	GPathogenic
Select item 146906	GRCh38/hg38 6p25.2-24.1(chr6:4068792-13267799)x1	ADTRP, BLOC1S5 +331 more	Copy number loss	See cases	GPathogenic
Select item 146669	GRCh38/hg38 6p25.1(chr6:6410889-6591309)x1	LOC129995692, LOC129995693 +6 more	Copy number loss	See cases	GBenign
Select item 144540	GRCh38/hg38 6p25.3-24.1(chr6:164360-13339881)x3	LOC129995778, LOC129995779 +571 more	Copy number gain	See cases	GPathogenic
Select item 58423	GRCh38/hg38 6p25.1-24.3(chr6:4427090-8391140)x1	BLOC1S5, BLOC1S5-TXNDC5 +159 more	Copy number loss	See cases	GPathogenic
Select item 58411	GRCh38/hg38 6p25.3-24.3(chr6:165675-9036034)x1	LOC126859546, LOC126859547 +431 more	Copy number loss	See cases	GPathogenic
Select item 58150	GRCh38/hg38 6p25.3-23(chr6:389423-13474956)x3	LOC129995630, LOC129995631 +536 more	Copy number gain	See cases	GPathogenic
Select item 58124	GRCh38/hg38 6p25.3-22.3(chr6:106431-18360595)x3	LINC02522, LINC02525 +823 more	Copy number gain	See cases	GPathogenic

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Links from Gene

Items: 45