7733[HGNC] - ClinVar

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Items: 82

	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 +825 more	Copy number gain	See cases	GPathogenic
Select item 155267	GRCh38/hg38 6p25.3-23(chr6:152634-14417003)x3	LOC129995681, LOC129995682 +643 more	Copy number gain	See cases	GPathogenic
Select item 151603	GRCh38/hg38 6p25.3-22.3(chr6:155807-17058414)x3	ADTRP, ATXN1 +779 more	Copy number gain	See cases	GPathogenic
Select item 155715	GRCh38/hg38 6p25.3-23(chr6:156974-13855925)x1	ADTRP, BLOC1S5 +612 more	Copy number loss	See cases	GPathogenic
Select item 155631	GRCh38/hg38 6p25.3-24.1(chr6:156974-13081201)x3	LOC129995778, LOC129995779 +559 more	Copy number gain	See cases	GLikely pathogenic
Select item 155430	GRCh38/hg38 6p25.3-12.3(chr6:156974-46789291)x3	ILRUN-AS1, IP6K3 +2582 more	Copy number gain	See cases	GPathogenic
Select item 154190	GRCh38/hg38 6p25.3-24.2(chr6:156974-11550817)x3	SLC35B3, SMIM13 +510 more	Copy number gain	See cases	GLikely pathogenic
Select item 144540	GRCh38/hg38 6p25.3-24.1(chr6:164360-13339881)x3	LOC129995802, LOC129995803 +573 more	Copy number gain	See cases	GPathogenic
Select item 58150	GRCh38/hg38 6p25.3-23(chr6:389423-13474956)x3	ADTRP, BLOC1S5 +537 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 2219660	NM_006403.4(NEDD9):c.2476C>T (p.Arg826Cys)	LOC126859587, NEDD9 (R677C +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2297454	NM_006403.4(NEDD9):c.2396T>G (p.Leu799Arg)	LOC126859587, NEDD9 (L799R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2554303	NM_006403.4(NEDD9):c.2368A>G (p.Ile790Val)	LOC126859587, NEDD9 (I641V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2316896	NM_006403.4(NEDD9):c.2318G>A (p.Arg773His)	LOC126859587, NEDD9 (R624H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2495456	NM_006403.4(NEDD9):c.2237G>T (p.Ser746Ile)	LOC126859587, NEDD9 (S597I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2513131	NM_006403.4(NEDD9):c.2221A>C (p.Ile741Leu)	LOC126859587, NEDD9 (I592L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3299156	NM_006403.4(NEDD9):c.2185C>T (p.Leu729Phe)	LOC126859587, NEDD9 (L580F +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2377819	NM_006403.4(NEDD9):c.2177T>C (p.Ile726Thr)	LOC126859587, NEDD9 (I577T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2467603	NM_006403.4(NEDD9):c.2152C>T (p.His718Tyr)	LOC126859587, NEDD9 (H718Y +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2320036	NM_006403.4(NEDD9):c.2114G>T (p.Arg705Leu)	LOC126859587, NEDD9 (R705L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2518931	NM_006403.4(NEDD9):c.2086A>C (p.Thr696Pro)	LOC126859587, NEDD9 (T696P +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3190831	NM_006403.4(NEDD9):c.2080C>T (p.Pro694Ser)	LOC126859587, NEDD9 (P545S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2557519	NM_006403.4(NEDD9):c.2038G>A (p.Val680Met)	LOC126859587, NEDD9 (V680M +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2656226	NM_006403.4(NEDD9):c.2037C>T (p.Pro679=)	LOC126859587, NEDD9	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2304328	NM_006403.4(NEDD9):c.1988A>G (p.His663Arg)	NEDD9 (H514R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2338101	NM_006403.4(NEDD9):c.1914G>C (p.Glu638Asp)	NEDD9 (E489D +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 710685	NM_006403.4(NEDD9):c.1899C>T (p.His633=)	NEDD9	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign/Likely benign
Select item 3190819	NM_006403.4(NEDD9):c.1894G>A (p.Val632Ile)	NEDD9 (V483I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2256661	NM_006403.4(NEDD9):c.1837C>T (p.Pro613Ser)	NEDD9 (P464S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 785803	NM_006403.4(NEDD9):c.1743C>T (p.His581=)	NEDD9	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 3299153	NM_006403.4(NEDD9):c.1709C>T (p.Pro570Leu)	NEDD9 (P421L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2236191	NM_006403.4(NEDD9):c.1694A>G (p.His565Arg)	NEDD9 (H416R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3190813	NM_006403.4(NEDD9):c.1588C>G (p.Arg530Gly)	NEDD9 (R381G +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 727676	NM_006403.4(NEDD9):c.1511A>G (p.His504Arg)	NEDD9 (H355R +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 3190809	NM_006403.4(NEDD9):c.1484C>A (p.Ser495Tyr)	NEDD9 (S346Y +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2318065	NM_006403.4(NEDD9):c.1310G>A (p.Cys437Tyr)	NEDD9 (C288Y +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2218592	NM_006403.4(NEDD9):c.1279C>A (p.Leu427Ile)	NEDD9 (L278I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3190799	NM_006403.4(NEDD9):c.1184C>T (p.Ser395Phe)	NEDD9 (S246F +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3190796	NM_006403.4(NEDD9):c.1130G>A (p.Arg377Gln)	NEDD9 (R377Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2461134	NM_006403.4(NEDD9):c.1075C>T (p.Arg359Trp)	NEDD9 (R210W +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2407029	NM_006403.4(NEDD9):c.1054C>A (p.Pro352Thr)	NEDD9 (P352T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3190788	NM_006403.4(NEDD9):c.1012C>T (p.Pro338Ser)	NEDD9 (P189S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2339270	NM_006403.4(NEDD9):c.997A>T (p.Ser333Cys)	NEDD9 (S333C +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3190914	NM_006403.4(NEDD9):c.967G>A (p.Val323Ile)	NEDD9 (V323I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3190908	NM_006403.4(NEDD9):c.947C>T (p.Ala316Val)	NEDD9 (A316V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2254985	NM_006403.4(NEDD9):c.871G>A (p.Ala291Thr)	NEDD9 (A142T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2562456	NM_006403.4(NEDD9):c.866C>T (p.Pro289Leu)	NEDD9 (P140L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2462385	NM_006403.4(NEDD9):c.811G>C (p.Ala271Pro)	NEDD9 (A122P +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2401802	NM_006403.4(NEDD9):c.770C>T (p.Pro257Leu)	NEDD9 (P108L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2267862	NM_006403.4(NEDD9):c.739A>G (p.Met247Val)	NEDD9 (M247V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2487755	NM_006403.4(NEDD9):c.713A>C (p.Glu238Ala)	NEDD9 (E89A +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3190899	NM_006403.4(NEDD9):c.692G>A (p.Arg231Gln)	NEDD9 (R82Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2465141	NM_006403.4(NEDD9):c.664G>A (p.Val222Ile)	NEDD9 (V73I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2289691	NM_006403.4(NEDD9):c.623T>G (p.Ile208Arg)	NEDD9 (I208R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2561860	NM_006403.4(NEDD9):c.593G>A (p.Gly198Asp)	NEDD9 (G49D +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2252436	NM_006403.4(NEDD9):c.580T>A (p.Ser194Thr)	NEDD9 (S194T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3190880	NM_006403.4(NEDD9):c.568G>A (p.Asp190Asn)	NEDD9 (D41N +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2468770	NM_006403.4(NEDD9):c.452G>A (p.Gly151Asp)	NEDD9 (G151D)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3190872	NM_006403.4(NEDD9):c.433A>G (p.Thr145Ala)	NEDD9 (T145A)	Single nucleotide variant (missense variant +2 more)	not specified	GLikely benign
Select item 3299154	NM_006403.4(NEDD9):c.425T>C (p.Ile142Thr)	NEDD9 (I142T)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2535206	NM_006403.4(NEDD9):c.373G>A (p.Gly125Ser)	NEDD9 (G125S)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3190867	NM_006403.4(NEDD9):c.359T>C (p.Val120Ala)	NEDD9 (V120A)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3299155	NM_006403.4(NEDD9):c.289C>G (p.Pro97Ala)	NEDD9 (P97A)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3190856	NM_006403.4(NEDD9):c.224A>T (p.Glu75Val)	NEDD9 (E75V)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2240449	NM_006403.4(NEDD9):c.223G>C (p.Glu75Gln)	NEDD9 (E75Q)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2312386	NM_006403.4(NEDD9):c.99A>G (p.Ile33Met)	NEDD9 (I33M)	Single nucleotide variant (missense variant +2 more)	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 1810398	GRCh37/hg19 6p25.3-22.3(chr6:820000-21700000)x3	ADTRP, ATXN1 +89 more	Copy number gain	See cases	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 687409	GRCh37/hg19 6p25.3-22.3(chr6:156974-23221621)x3	ADTRP, ATXN1 +95 more	Copy number gain	not provided	GPathogenic
Select item 563154	GRCh37/hg19 6p25.1-24.2(chr6:6990611-11276452)x1	BLOC1S5, BMP6 +23 more	Copy number loss	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)	AARS2, ABCC10 +1028 more	Copy number gain	See cases	GPathogenic
Select item 443496	GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)x3	RING1, RIOK1 +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

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Items: 82