ClinVar for Gene (Select 3036) - ClinVar

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Links from Gene

Items: 67

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3104261	NM_001297436.2(HAS1):c.772C>T (p.Arg258Trp)	HAS1 (R258W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3104260	NM_001297436.2(HAS1):c.748G>A (p.Val250Met)	HAS1 (V251M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3104259	NM_001297436.2(HAS1):c.710C>T (p.Ser237Leu)	HAS1 (S238L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3104258	NM_001297436.2(HAS1):c.443G>T (p.Arg148Leu)	HAS1 (R148L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3104257	NM_001297436.2(HAS1):c.320C>T (p.Pro107Leu)	HAS1 (P107L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3104256	NM_001297436.2(HAS1):c.1715G>A (p.Gly572Asp)	HAS1 (G572D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3104255	NM_001297436.2(HAS1):c.1681G>A (p.Gly561Ser)	HAS1 (G561S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3104254	NM_001297436.2(HAS1):c.1670T>C (p.Leu557Pro)	HAS1 (L557P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3104253	NM_001297436.2(HAS1):c.1637C>A (p.Ala546Asp)	HAS1 (A547D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3104252	NM_001297436.2(HAS1):c.1396C>T (p.Leu466Phe)	HAS1 (L466F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3104251	NM_001297436.2(HAS1):c.1369A>C (p.Met457Leu)	HAS1 (M457L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3104250	NM_001297436.2(HAS1):c.1354C>T (p.Arg452Trp)	HAS1 (R452W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3104249	NM_001297436.2(HAS1):c.1295G>C (p.Trp432Ser)	HAS1 (W433S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2684892	GRCh37/hg19 19q13.33-13.43(chr19:49625130-57647352)x3	ACP4, ADM5 +261 more	Copy number gain	not provided	GLikely pathogenic
Select item 2650379	NM_001297436.2(HAS1):c.426C>T (p.Tyr142=)	HAS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2620423	NM_001297436.2(HAS1):c.1519C>T (p.Leu507Phe)	HAS1 (L507F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2617483	NM_001297436.2(HAS1):c.1684G>A (p.Val562Met)	HAS1 (V562M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2606528	NM_001297436.2(HAS1):c.1031G>T (p.Arg344Leu)	HAS1 (R344L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2551109	NM_001297436.2(HAS1):c.1441A>C (p.Thr481Pro)	HAS1 (T481P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2545675	NM_001297436.2(HAS1):c.775G>A (p.Val259Ile)	HAS1 (V259I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2542356	NM_001297436.2(HAS1):c.383G>T (p.Arg128Leu)	HAS1 (R129L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2531444	NM_001297436.2(HAS1):c.116A>G (p.Tyr39Cys)	HAS1 (Y39C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2527286	NM_001297436.2(HAS1):c.43T>G (p.Cys15Gly)	HAS1 (C16G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2485927	NM_001297436.2(HAS1):c.934A>G (p.Arg312Gly)	HAS1 (R312G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2482183	NM_001297436.2(HAS1):c.338G>T (p.Cys113Phe)	HAS1 (C114F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2469463	NM_001297436.2(HAS1):c.92T>G (p.Ile31Ser)	HAS1 (I31S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2457870	NM_001297436.2(HAS1):c.668A>G (p.Lys223Arg)	HAS1 (K224R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2407365	NM_001297436.2(HAS1):c.653T>C (p.Met218Thr)	HAS1 (M218T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2403738	NM_001297436.2(HAS1):c.1044G>A (p.Met348Ile)	HAS1 (M348I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2390371	NM_001297436.2(HAS1):c.1409G>A (p.Gly470Asp)	HAS1 (G470D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2377959	NM_001297436.2(HAS1):c.193C>A (p.His65Asn)	HAS1 (H66N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2368837	NM_001297436.2(HAS1):c.1484T>A (p.Leu495Gln)	HAS1 (L496Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2365435	NM_001297436.2(HAS1):c.969G>T (p.Trp323Cys)	HAS1 (W323C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2360542	NM_001297436.2(HAS1):c.662C>A (p.Ala221Asp)	HAS1 (A221D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2345551	NM_001297436.2(HAS1):c.800G>A (p.Arg267Gln)	HAS1 (R267Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2325863	NM_001297436.2(HAS1):c.409C>A (p.Arg137Ser)	HAS1 (R138S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2325736	NM_001297436.2(HAS1):c.1634G>A (p.Gly545Asp)	HAS1 (G545D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2323087	NM_001297436.2(HAS1):c.1040G>C (p.Ser347Thr)	HAS1 (S348T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2267762	NM_001297436.2(HAS1):c.1603G>A (p.Ala535Thr)	HAS1 (A535T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2255955	NM_001297436.2(HAS1):c.38G>A (p.Cys13Tyr)	HAS1 (C13Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2250802	NM_001297436.2(HAS1):c.1362C>G (p.Cys454Trp)	HAS1 (C454W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2235060	NM_001297436.2(HAS1):c.158T>G (p.Leu53Arg)	HAS1 (L53R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2219406	NM_001297436.2(HAS1):c.889T>C (p.Tyr297His)	HAS1 (Y297H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2216665	NM_001297436.2(HAS1):c.1513C>G (p.Leu505Val)	HAS1 (L505V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2213653	NM_001297436.2(HAS1):c.1021C>A (p.Leu341Ile)	HAS1 (L342I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2212675	NM_001297436.2(HAS1):c.1451A>G (p.Gln484Arg)	HAS1 (Q484R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2208835	NM_001297436.2(HAS1):c.248C>T (p.Ala83Val)	HAS1 (A84V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2208259	NM_001297436.2(HAS1):c.493T>A (p.Tyr165Asn)	HAS1 (Y165N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1801739	NM_001297436.2(HAS1):c.233G>T (p.Arg78Leu)	HAS1 (R78L +1 more)	Single nucleotide variant (missense variant)	Myoepithelial tumor	GUncertain significance
Select item 1526670	GRCh37/hg19 19q13.33-13.41(chr19:49911081-53127438)	FPR3, ZNF577 +115 more	Copy number gain	not specified	GLikely pathogenic
Select item 1340619	GRCh37/hg19 19q13.41(chr19:51769834-52415762)x3	CEACAM18, CLDND2 +21 more	Copy number gain	not provided	GUncertain significance
Select item 980768	GRCh37/hg19 19q13.33-13.43(chr19:48463931-57095254)x3	FLT3LG, FPR1 +308 more	Copy number gain	not provided	GPathogenic
Select item 972980	GRCh37/hg19 19q13.32-13.42(chr19:47939842-54626871)	FUZ, GARIN5A +228 more	Copy number gain	not provided	Gnot provided
Select item 816084	GRCh37/hg19 19q13.31-13.42(chr19:44738088-53621561)x3	CLDND2, IGSF23 +293 more	Copy number gain	not provided	GPathogenic
Select item 729825	NM_001297436.2(HAS1):c.1240G>A (p.Val414Met)	HAS1 (V414M +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 443499	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)	BICRA, BLOC1S3 +1364 more	Copy number gain	See cases	GPathogenic
Select item 443498	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)x3	A1BG, ABCA7 +1364 more	Copy number gain	See cases	GPathogenic
Select item 394342	GRCh37/hg19 19q13.33-13.43(chr19:50489390-59095359)x3	A1BG, ACP4 +280 more	Copy number gain	See cases	GPathogenic
Select item 394217	GRCh37/hg19 19q13.41(chr19:52224551-52328897)x3	FPR1, FPR2 +2 more	Copy number gain	See cases	GBenign
Select item 155383	GRCh38/hg38 19q13.41(chr19:51202361-51993020)x3	C19orf84, CD33 +62 more	Copy number gain	See cases	GUncertain significance
Select item 149471	GRCh38/hg38 19q13.41(chr19:51681235-51936423)x3	FPR1, FPR2 +15 more	Copy number gain	See cases	GLikely benign
Select item 146579	GRCh38/hg38 19q13.33-13.43(chr19:50152520-58581203)x3	A1BG, A1BG-AS1 +782 more	Copy number gain	See cases	GPathogenic
Select item 59127	GRCh38/hg38 19q13.41-13.43(chr19:51141518-58539965)x3	A1BG, A1BG-AS1 +647 more	Copy number gain	See cases	GPathogenic
Select item 59126	GRCh38/hg38 19q13.33-13.43(chr19:49907832-58557889)x3	MIR10394, MIR125A +806 more	Copy number gain	See cases	GPathogenic
Select item 59117	GRCh38/hg38 19q13.33-13.43(chr19:47929575-58572206)x3	LOC130064933, LOC130064934 +1093 more	Copy number gain	See cases	GPathogenic
Select item 59116	GRCh38/hg38 19q13.33-13.43(chr19:47908540-58539965)x3	ZBTB45, ZFP28 +1081 more	Copy number gain	See cases	GPathogenic
Select item 57219	GRCh38/hg38 19q13.33-13.43(chr19:50191219-58535818)x3	LILRA4, LILRA5 +761 more	Copy number gain	See cases	GPathogenic

ClinVar

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Links from Gene

Items: 67