"PreventionGenetics, part of Exact Sciences"[submitter] AND "HECW2"[ge - ClinVar

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Items: 35

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 708316	NM_001348768.2(HECW2):c.4554C>T (p.Asn1518=)	HECW2	Single nucleotide variant (synonymous variant)	HECW2-related disorder +1 more	GBenign
Select item 3061694	NM_001348768.2(HECW2):c.4186C>A (p.Pro1396Thr)	HECW2 (P1040T +1 more)	Single nucleotide variant (missense variant)	HECW2-related disorder	GUncertain significance
Select item 718508	NM_001348768.2(HECW2):c.4181A>G (p.Asn1394Ser)	HECW2 (N1038S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GBenign/Likely benign
Select item 767834	NM_001348768.2(HECW2):c.4020A>G (p.Leu1340=)	HECW2	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 242318	NM_001348768.2(HECW2):c.3988C>T (p.Arg1330Trp)	HECW2 (R1330W +1 more)	Single nucleotide variant (missense variant)	HECW2-related disorder +2 more	GPathogenic
Select item 3053797	NM_001348768.2(HECW2):c.3963G>A (p.Gln1321=)	HECW2	Single nucleotide variant (synonymous variant)	HECW2-related disorder	GLikely benign
Select item 738351	NM_001348768.2(HECW2):c.3864A>C (p.Thr1288=)	HECW2	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 2628422	NM_001348768.2(HECW2):c.3752T>G (p.Val1251Gly)	HECW2 (V1251G +1 more)	Single nucleotide variant (missense variant)	HECW2-related disorder	GUncertain significance
Select item 737374	NM_020760.4(HECW2):c.3650+9_3650+10del	HECW2	Deletion	not provided +1 more	GBenign
Select item 242317	NM_001348768.2(HECW2):c.3572G>A (p.Arg1191Gln)	HECW2 (R1191Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GPathogenic
Select item 3038349	NM_001348768.2(HECW2):c.3555T>C (p.Ala1185=)	HECW2	Single nucleotide variant (synonymous variant)	HECW2-related disorder	GLikely benign
Select item 2630686	NM_001348768.2(HECW2):c.3550C>T (p.Arg1184Trp)	HECW2 (R1184W +1 more)	Single nucleotide variant (missense variant)	HECW2-related disorder	GUncertain significance
Select item 746967	NM_020760.4(HECW2):c.3000+7C>T	HECW2	Single nucleotide variant	not provided +1 more	GBenign/Likely benign
Select item 3046705	NM_001348768.2(HECW2):c.2705A>G (p.Asn902Ser)	HECW2 (N546S +1 more)	Single nucleotide variant (missense variant)	HECW2-related disorder	GLikely benign
Select item 3031344	NM_001348768.2(HECW2):c.2679A>G (p.Gln893=)	HECW2	Single nucleotide variant (synonymous variant)	HECW2-related disorder	GLikely benign
Select item 729410	NM_001348768.2(HECW2):c.2661G>A (p.Glu887=)	HECW2	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 3052338	NM_001348768.2(HECW2):c.2532G>A (p.Pro844=)	HECW2	Single nucleotide variant (synonymous variant)	HECW2-related disorder	GLikely benign
Select item 975709	NM_001348768.2(HECW2):c.2434+6G>A	HECW2	Single nucleotide variant (intron variant)	HECW2-related disorder +1 more	GLikely benign
Select item 772856	NM_001348768.2(HECW2):c.2247T>C (p.Ala749=)	HECW2	Single nucleotide variant (synonymous variant)	HECW2-related disorder +1 more	GBenign
Select item 709367	NM_001348768.2(HECW2):c.2239G>C (p.Ala747Pro)	HECW2 (A391P +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign/Likely benign
Select item 720341	NM_001348768.2(HECW2):c.2229G>T (p.Leu743=)	HECW2	Single nucleotide variant (synonymous variant)	HECW2-related disorder +1 more	GBenign
Select item 3029501	NM_001348768.2(HECW2):c.2163G>T (p.Gly721=)	HECW2	Single nucleotide variant (synonymous variant)	HECW2-related disorder	GLikely benign
Select item 791019	NM_001348768.2(HECW2):c.2090C>T (p.Ser697Leu)	HECW2 (S341L +1 more)	Single nucleotide variant (missense variant)	HECW2-related disorder +2 more	GLikely benign
Select item 2395613	NM_001348768.2(HECW2):c.1879G>A (p.Glu627Lys)	HECW2 (E271K +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GLikely benign
Select item 720342	NM_001348768.2(HECW2):c.1856C>G (p.Pro619Arg)	HECW2 (P263R +1 more)	Single nucleotide variant (missense variant)	HECW2-related disorder +1 more	GBenign/Likely benign
Select item 729069	NM_001348768.2(HECW2):c.1782C>T (p.Ala594=)	HECW2	Single nucleotide variant (synonymous variant)	HECW2-related disorder +1 more	GLikely benign
Select item 2054835	NM_001348768.2(HECW2):c.1735G>A (p.Gly579Ser)	HECW2 (G223S +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely benign
Select item 2083638	NM_001348768.2(HECW2):c.1717G>A (p.Val573Ile)	HECW2 (V573I +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely benign
Select item 780025	NM_001348768.2(HECW2):c.1341GAG[1] (p.Arg448del)	HECW2 (R92del +1 more)	Microsatellite (inframe_deletion)	HECW2-related disorder +1 more	GBenign
Select item 254100	NM_001348768.2(HECW2):c.1249_1251del (p.Asn417del)	HECW2 (N417del +1 more)	Deletion (inframe_deletion)	HECW2-related disorder	GLikely benign
Select item 720241	NM_001348768.2(HECW2):c.1250A>G (p.Asn417Ser)	HECW2 (N61S +1 more)	Single nucleotide variant (missense variant)	HECW2-related disorder +2 more	GBenign/Likely benign
Select item 788515	NM_001348768.2(HECW2):c.996A>G (p.Pro332=)	HECW2	Single nucleotide variant (5 prime UTR variant +1 more)	not provided +2 more	GBenign/Likely benign
Select item 3033928	NM_001348768.2(HECW2):c.384G>A (p.Gly128=)	HECW2	Single nucleotide variant (5 prime UTR variant +1 more)	HECW2-related disorder	GBenign
Select item 774412	NM_001348768.2(HECW2):c.207G>A (p.Thr69=)	HECW2	Single nucleotide variant (synonymous variant)	HECW2-related disorder +1 more	GBenign
Select item 736834	NM_001348768.2(HECW2):c.189C>T (p.Ala63=)	HECW2	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign

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Items: 35