ClinVar for Gene (Select 220001) - ClinVar

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Items: 85

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3332500	NM_152718.2(VWCE):c.2819C>G (p.Pro940Arg)	VWCE (P940R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3332499	NM_152718.2(VWCE):c.2356C>T (p.Pro786Ser)	VWCE (P786S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3332498	NM_152718.2(VWCE):c.1516C>T (p.Arg506Trp)	VWCE (R506W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3332497	NM_152718.2(VWCE):c.1550G>A (p.Gly517Asp)	VWCE (G517D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3332496	NM_152718.2(VWCE):c.2405T>C (p.Leu802Pro)	VWCE (L802P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3332495	NM_152718.2(VWCE):c.1610C>T (p.Pro537Leu)	VWCE (P537L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3189391	NM_152718.2(VWCE):c.833G>A (p.Arg278Gln)	VWCE (R278Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3189390	NM_152718.2(VWCE):c.544A>G (p.Thr182Ala)	VWCE (T182A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3189389	NM_152718.2(VWCE):c.452G>A (p.Cys151Tyr)	VWCE (C151Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3189388	NM_152718.2(VWCE):c.2777C>T (p.Ser926Phe)	VWCE (S926F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3189387	NM_152718.2(VWCE):c.2572C>T (p.Pro858Ser)	VWCE (P858S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3189386	NM_152718.2(VWCE):c.23G>A (p.Arg8Gln)	VWCE (R8Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3189385	NM_152718.2(VWCE):c.2381C>T (p.Pro794Leu)	VWCE (P794L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3189384	NM_152718.2(VWCE):c.2188G>A (p.Asp730Asn)	VWCE (D730N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3189382	NM_152718.2(VWCE):c.1828T>G (p.Ser610Ala)	VWCE (S610A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3189381	NM_152718.2(VWCE):c.173C>T (p.Ala58Val)	VWCE (A58V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3189380	NM_152718.2(VWCE):c.1733C>T (p.Pro578Leu)	VWCE (P578L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3189379	NM_152718.2(VWCE):c.1228G>A (p.Glu410Lys)	VWCE (E410K)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3063215	GRCh37/hg19 11q12.1-13.3(chr11:56895955-69295402)x3	ACTN3, ACY3 +343 more	Copy number gain	not specified	GLikely pathogenic
Select item 3063189	GRCh37/hg19 11p11.12-q13.1(chr11:50398499-63924462)x3	AHNAK, APLNR +225 more	Copy number gain	not specified	GLikely pathogenic
Select item 2684646	GRCh37/hg19 11q12.2-13.5(chr11:59923608-76272324)x3	FOLR2, RAB3IL1 +362 more	Copy number gain	not provided	GPathogenic
Select item 2618670	NM_152718.2(VWCE):c.1943C>T (p.Pro648Leu)	LOC126861223, VWCE (P648L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2616440	NM_152718.2(VWCE):c.2578G>A (p.Ala860Thr)	VWCE (A860T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2614839	NM_152718.2(VWCE):c.2839G>A (p.Ala947Thr)	VWCE (A947T)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2614191	NM_152718.2(VWCE):c.260C>T (p.Ser87Phe)	VWCE (S87F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2613616	NM_152718.2(VWCE):c.1459A>T (p.Thr487Ser)	VWCE (T487S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2605234	NM_152718.2(VWCE):c.2776T>C (p.Ser926Pro)	VWCE (S926P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2604763	NM_152718.2(VWCE):c.942G>T (p.Arg314Ser)	VWCE (R314S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2594531	NM_152718.2(VWCE):c.1346T>A (p.Val449Asp)	VWCE (V449D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2592531	NM_152718.2(VWCE):c.1846C>G (p.Arg616Gly)	VWCE (R616G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2559945	NM_152718.2(VWCE):c.1645C>T (p.Arg549Trp)	VWCE (R549W)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2532584	NM_152718.2(VWCE):c.1370C>T (p.Ser457Leu)	VWCE (S457L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2532188	NM_152718.2(VWCE):c.881C>T (p.Pro294Leu)	VWCE (P294L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2523448	NM_152718.2(VWCE):c.2068G>A (p.Glu690Lys)	VWCE (E690K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2522828	NM_152718.2(VWCE):c.1087G>A (p.Glu363Lys)	VWCE (E363K)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2509096	NM_152718.2(VWCE):c.428T>C (p.Ile143Thr)	VWCE (I143T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2487691	NM_152718.2(VWCE):c.1193G>T (p.Arg398Leu)	VWCE (R398L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2483727	NM_152718.2(VWCE):c.959C>T (p.Ser320Phe)	VWCE (S320F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2482686	NM_152718.2(VWCE):c.643C>G (p.Arg215Gly)	VWCE (R215G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2481254	NM_152718.2(VWCE):c.112C>T (p.Arg38Cys)	VWCE (R38C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2481150	NM_152718.2(VWCE):c.307C>T (p.Pro103Ser)	VWCE (P103S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2475443	NM_152718.2(VWCE):c.2492C>T (p.Thr831Ile)	VWCE (T831I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2469952	NM_152718.2(VWCE):c.799G>T (p.Ala267Ser)	VWCE (A267S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2468895	NM_152718.2(VWCE):c.389C>T (p.Ser130Leu)	VWCE (S130L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2425028	NC_000011.9:g.(?_58916346)_(64972349_?)dup	AHNAK, ARL2 +182 more	Duplication	Leukocyte adhesion deficiency 3	GUncertain significance
Select item 2412190	NM_152718.2(VWCE):c.2678C>A (p.Thr893Asn)	VWCE (T893N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2393636	NM_152718.2(VWCE):c.2845C>T (p.Arg949Trp)	VWCE (R949W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2382134	NM_152718.2(VWCE):c.1760A>T (p.Asp587Val)	VWCE (D587V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2377640	NM_152718.2(VWCE):c.1796C>T (p.Ser599Leu)	VWCE (S599L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2373522	NM_152718.2(VWCE):c.379G>A (p.Val127Met)	VWCE (V127M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2371061	NM_152718.2(VWCE):c.643C>T (p.Arg215Trp)	VWCE (R215W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2370337	NM_152718.2(VWCE):c.1928C>T (p.Pro643Leu)	LOC126861223, VWCE (P643L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2352824	NM_152718.2(VWCE):c.2176C>T (p.Arg726Trp)	VWCE (R726W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2342480	NM_152718.2(VWCE):c.1990G>A (p.Val664Met)	VWCE (V664M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2342082	NM_152718.2(VWCE):c.2474C>T (p.Ser825Leu)	VWCE (S825L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2331894	NM_152718.2(VWCE):c.287C>T (p.Thr96Ile)	VWCE (T96I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2305334	NM_152718.2(VWCE):c.1879G>T (p.Ala627Ser)	VWCE (A627S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2289704	NM_152718.2(VWCE):c.842C>T (p.Pro281Leu)	VWCE (P281L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2277936	NM_152718.2(VWCE):c.344A>G (p.His115Arg)	VWCE (H115R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2270353	NM_152718.2(VWCE):c.155G>A (p.Gly52Asp)	VWCE (G52D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2269334	NM_152718.2(VWCE):c.184G>C (p.Gly62Arg)	VWCE (G62R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2264854	NM_152718.2(VWCE):c.2635T>C (p.Ser879Pro)	VWCE (S879P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2260209	NM_152718.2(VWCE):c.310T>C (p.Cys104Arg)	VWCE (C104R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2256899	NM_152718.2(VWCE):c.998C>G (p.Pro333Arg)	VWCE (P333R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2244975	NM_152718.2(VWCE):c.2512C>T (p.Pro838Ser)	VWCE (P838S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2244082	NM_152718.2(VWCE):c.2788A>G (p.Thr930Ala)	VWCE (T930A)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2227038	NM_152718.2(VWCE):c.2291G>A (p.Ser764Asn)	VWCE (S764N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2223696	NM_152718.2(VWCE):c.2711T>A (p.Met904Lys)	VWCE (M904K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2216638	NM_152718.2(VWCE):c.937G>A (p.Val313Ile)	VWCE (V313I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2209512	NM_152718.2(VWCE):c.1531G>A (p.Gly511Arg)	VWCE (G511R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2204244	NM_152718.2(VWCE):c.526C>T (p.Arg176Cys)	VWCE (R176C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1707422	GRCh37/hg19 11p11.2-q12.2(chr11:51581311-54891247)x3	ACP2, ACCS +216 more	Copy number gain	See cases	GPathogenic
Select item 1704646	GRCh37/hg19 11p13-q25(chr11:32799481-134938470)x3	MAML2, MAP3K11 +955 more	Copy number gain	MISSED ABORTION	GPathogenic
Select item 997825	Single allele	MMP13, MMP20 +904 more	Deletion	Intellectual disability	GPathogenic
Select item 932506	NM_152718.2(VWCE):c.1416C>T (p.Asn472=)	VWCE	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 815435	GRCh37/hg19 11q12.2-12.3(chr11:60385382-62456278)x3	CD5, CD6 +58 more	Copy number gain	not provided	GUncertain significance
Select item 785354	NM_152718.2(VWCE):c.2031C>T (p.Asp677=)	VWCE	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 723670	NM_152718.2(VWCE):c.832C>T (p.Arg278Trp)	VWCE (R278W)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 712081	NM_152718.2(VWCE):c.2375C>T (p.Ser792Leu)	VWCE (S792L)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 687991	GRCh37/hg19 11q12.2(chr11:60499486-61529578)x3	CCDC86, CD5 +27 more	Copy number gain	not provided	GUncertain significance
Select item 599545	NM_152718.2(VWCE):c.1633C>T (p.Arg545Ter)	VWCE (R545*)	Single nucleotide variant (nonsense)	Short stature	GPathogenic
Select item 563873	GRCh37/hg19 11q12.1-12.3(chr11:58935215-62177656)x3	ASRGL1, BEST1 +72 more	Copy number gain	not provided	GLikely pathogenic
Select item 441904	GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)	AAMDC, AASDHPPT +1289 more	Copy number gain	See cases	GPathogenic
Select item 441903	GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)x3	SLC37A4, SNORD26 +1289 more	Copy number gain	See cases	GPathogenic
Select item 150457	GRCh38/hg38 11q12.2(chr11:61181337-61516830)x3	CPSF7, CYB561A3 +23 more	Copy number gain	See cases	GUncertain significance

ClinVar

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Links from Gene

Items: 85