222[HGNC] - ClinVar

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Items: 74

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 149824	GRCh38/hg38 5p15.33-q13.3(chr5:22149-74412725)x3	ACTBL2, ADAMTS12 +1445 more	Copy number gain	See cases	GPathogenic
Select item 800723	GRCh38/hg38 5q11.2-13.2(chr5:58785203-73519962)x1	LOC129993982, LOC129993983 +265 more	Copy number loss	Intellectual disability	GLikely pathogenic
Select item 146335	GRCh38/hg38 5q12.1-13.2(chr5:63207112-71291191)x3	ADAMTS6, AK6 +139 more	Copy number gain	See cases	GLikely pathogenic
Select item 57512	GRCh38/hg38 5q12.3-13.2(chr5:64932763-69495504)x1	ADAMTS6, AK6 +115 more	Copy number loss	See cases	GPathogenic
Select item 151037	GRCh38/hg38 5q12.3(chr5:65162063-65680676)x3	ADAMTS6, CENPK +8 more	Copy number gain	See cases	GLikely benign
Select item 3077770	NM_197941.4(ADAMTS6):c.3229A>G (p.Ile1077Val)	ADAMTS6 (I1077V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2295148	NM_197941.4(ADAMTS6):c.3182G>A (p.Arg1061Gln)	ADAMTS6 (R1061Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2603592	NM_197941.4(ADAMTS6):c.3148G>C (p.Gly1050Arg)	ADAMTS6 (G1050R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3036803	NM_197941.4(ADAMTS6):c.3071C>T (p.Thr1024Ile)	ADAMTS6 (T1024I)	Single nucleotide variant (missense variant +1 more)	ADAMTS6-related disorder	GLikely benign
Select item 2373552	NM_197941.4(ADAMTS6):c.3032G>A (p.Arg1011His)	ADAMTS6 (R1011H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2470545	NM_197941.4(ADAMTS6):c.3031C>T (p.Arg1011Cys)	ADAMTS6 (R1011C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2347248	NM_197941.4(ADAMTS6):c.3025C>G (p.Arg1009Gly)	ADAMTS6 (R1009G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2553812	NM_197941.4(ADAMTS6):c.2977A>G (p.Lys993Glu)	ADAMTS6 (K993E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3077721	NM_197941.4(ADAMTS6):c.2961G>C (p.Lys987Asn)	ADAMTS6 (K987N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 929750	NM_197941.4(ADAMTS6):c.2840G>A (p.Arg947Gln)	ADAMTS6 (R947Q)	Single nucleotide variant (missense variant +1 more)	Premature ovarian failure	GLikely pathogenic
Select item 2397131	NM_197941.4(ADAMTS6):c.2791G>A (p.Gly931Arg)	ADAMTS6 (G931R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3267724	NM_197941.4(ADAMTS6):c.2761A>G (p.Thr921Ala)	ADAMTS6 (T921A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2372553	NM_197941.4(ADAMTS6):c.2727G>C (p.Leu909Phe)	ADAMTS6 (L909F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 146452	GRCh38/hg38 5q12.3(chr5:65211728-66746761)x3	ADAMTS6, CENPK +41 more	Copy number gain	See cases	GUncertain significance
Select item 3267735	NM_197941.4(ADAMTS6):c.2459T>C (p.Leu820Ser)	ADAMTS6 (L820S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2210588	NM_197941.4(ADAMTS6):c.2302A>G (p.Ile768Val)	ADAMTS6 (I768V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 786057	NM_197941.4(ADAMTS6):c.2254A>G (p.Met752Val)	ADAMTS6 (M752V)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 2623681	NM_197941.4(ADAMTS6):c.2105G>A (p.Arg702Lys)	ADAMTS6 (R702K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2205487	NM_197941.4(ADAMTS6):c.2091G>T (p.Leu697Phe)	ADAMTS6 (L697F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3077701	NM_197941.4(ADAMTS6):c.2015G>C (p.Gly672Ala)	ADAMTS6 (G672A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2535510	NM_197941.4(ADAMTS6):c.1940T>G (p.Val647Gly)	ADAMTS6 (V647G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2365543	NM_197941.4(ADAMTS6):c.1861G>C (p.Glu621Gln)	ADAMTS6 (E621Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2562028	NM_197941.4(ADAMTS6):c.1850G>A (p.Arg617Gln)	ADAMTS6 (R617Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2304364	NM_197941.4(ADAMTS6):c.1847C>T (p.Ser616Phe)	ADAMTS6 (S616F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3267746	NM_197941.4(ADAMTS6):c.1786T>C (p.Tyr596His)	ADAMTS6 (Y596H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2458903	NM_197941.4(ADAMTS6):c.1775G>C (p.Gly592Ala)	ADAMTS6 (G592A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2286273	NM_197941.4(ADAMTS6):c.1745T>G (p.Leu582Arg)	ADAMTS6 (L582R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3267703	NM_197941.4(ADAMTS6):c.1744C>A (p.Leu582Ile)	ADAMTS6 (L582I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3077687	NM_197941.4(ADAMTS6):c.1723G>C (p.Gly575Arg)	ADAMTS6 (G575R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2354811	NM_197941.4(ADAMTS6):c.1619G>A (p.Gly540Glu)	ADAMTS6 (G540E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3267714	NM_197941.4(ADAMTS6):c.1546A>G (p.Ser516Gly)	ADAMTS6 (S516G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3077681	NM_197941.4(ADAMTS6):c.1432G>A (p.Val478Met)	ADAMTS6 (V478M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3077678	NM_197941.4(ADAMTS6):c.1396A>G (p.Asn466Asp)	ADAMTS6 (N466D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2554652	NM_197941.4(ADAMTS6):c.1349A>G (p.Asp450Gly)	ADAMTS6 (D450G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2297123	NM_197941.4(ADAMTS6):c.1348G>T (p.Asp450Tyr)	ADAMTS6 (D450Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2316907	NM_197941.4(ADAMTS6):c.1319A>G (p.Asn440Ser)	ADAMTS6 (N440S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2337116	NM_197941.4(ADAMTS6):c.1274A>G (p.His425Arg)	ADAMTS6 (H425R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2265523	NM_197941.4(ADAMTS6):c.1163G>A (p.Ser388Asn)	ADAMTS6 (S388N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3077657	NM_197941.4(ADAMTS6):c.1147C>T (p.Pro383Ser)	ADAMTS6 (P383S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 151651	GRCh38/hg38 5q12.3(chr5:65413763-66430722)x1	ADAMTS6, CENPK +28 more	Copy number loss	See cases	GLikely pathogenic
Select item 2655494	NM_197941.4(ADAMTS6):c.844-4T>G	ADAMTS6	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 2298871	NM_197941.4(ADAMTS6):c.731G>A (p.Arg244Lys)	ADAMTS6 (R244K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3077807	NM_197941.4(ADAMTS6):c.700A>G (p.Asn234Asp)	ADAMTS6 (N234D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3046812	NM_197941.4(ADAMTS6):c.653C>T (p.Pro218Leu)	ADAMTS6 (P218L)	Single nucleotide variant (missense variant +1 more)	ADAMTS6-related disorder	GLikely benign
Select item 3341708	NM_197941.4(ADAMTS6):c.629C>T (p.Ser210Leu)	ADAMTS6 (S210L)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2283915	NM_197941.4(ADAMTS6):c.608A>T (p.Asp203Val)	ADAMTS6 (D203V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3267675	NM_197941.4(ADAMTS6):c.605A>G (p.Tyr202Cys)	ADAMTS6 (Y202C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3041474	NM_197941.4(ADAMTS6):c.464A>G (p.His155Arg)	ADAMTS6 (H155R)	Single nucleotide variant (missense variant +1 more)	ADAMTS6-related disorder	GLikely benign
Select item 2493286	NM_197941.4(ADAMTS6):c.437T>C (p.Val146Ala)	ADAMTS6 (V146A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3077787	NM_197941.4(ADAMTS6):c.371A>C (p.Lys124Thr)	ADAMTS6 (K124T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3043728	NM_197941.4(ADAMTS6):c.269C>T (p.Ser90Leu)	ADAMTS6 (S90L)	Single nucleotide variant (missense variant +1 more)	ADAMTS6-related disorder	GLikely benign
Select item 2530230	NM_197941.4(ADAMTS6):c.244G>A (p.Val82Ile)	ADAMTS6 (V82I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2492411	NM_197941.4(ADAMTS6):c.227T>G (p.Ile76Ser)	ADAMTS6 (I76S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3267693	NM_197941.4(ADAMTS6):c.197A>G (p.His66Arg)	ADAMTS6 (H66R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3077821	NM_197941.4(ADAMTS6):c.78G>T (p.Arg26Ser)	ADAMTS6 (R26S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2471995	NM_197941.4(ADAMTS6):c.36G>C (p.Leu12Phe)	ADAMTS6 (L12F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3148880	GRCh37/hg19 5q12.3-13.2(chr5:64364710-72835471)x1	ADAMTS6, CDK7 +40 more	Copy number loss	See cases	GPathogenic
Select item 3062840	GRCh37/hg19 5q12.3(chr5:64770345-64949871)x3	ADAMTS6, CENPK +3 more	Copy number gain	not specified	GUncertain significance
Select item 3024635	GRCh37/hg19 5q12.3-13.1(chr5:64111112-67101123)x1	ADAMTS6, CD180 +10 more	Copy number loss	not provided	GPathogenic
Select item 2671624	Single allele	ADAMTS6, CD180 +16 more	Deletion	not provided	GUncertain significance
Select item 1527167	GRCh37/hg19 5q12.3-13.2(chr5:64049692-70306646)	ADAMTS6, CCDC125 +28 more	Copy number loss	not specified	GPathogenic
Select item 1456117	NC_000005.9:g.(?_63256278)_(65374358_?)del	ADAMTS6, CENPK +12 more	Deletion	not provided	GPathogenic
Select item 979680	GRCh37/hg19 5q12.3(chr5:63827760-64499916)x3	ADAMTS6, RGS7BP +3 more	Copy number gain	not provided	GUncertain significance
Select item 814692	GRCh37/hg19 5q12.3(chr5:64775928-64994289)x1	SGTB, CENPK +4 more	Copy number loss	not provided	GUncertain significance
Select item 635930	Single allele	C5orf24, C5orf34 +600 more	Deletion	Neurodevelopmental disorder	GUncertain significance
Select item 442431	GRCh37/hg19 5p15.1-q35.2(chr5:17628741-176575720)x1	DHFR, DHX29 +738 more	Copy number loss	See cases	GPathogenic
Select item 442344	GRCh37/hg19 5q12.1-13.2(chr5:58966132-68847066)x4	ADAMTS6, CCDC125 +39 more	Copy number gain	See cases	GLikely pathogenic
Select item 441920	GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789)	ABLIM3, ACOT12 +870 more	Copy number gain	See cases	GPathogenic
Select item 441919	GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789)x3	ABLIM3, ACOT12 +870 more	Copy number gain	See cases	GPathogenic

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Items: 74