"PreventionGenetics, part of Exact Sciences"[submitter] AND "HECTD4"[g - ClinVar

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Items: 22

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3060705	NM_001388303.1(HECTD4):c.12533G>C (p.Ser4178Thr)	HECTD4 (S4178T +1 more)	Single nucleotide variant (missense variant)	HECTD4-related disorder	GUncertain significance
Select item 3048931	NM_001388303.1(HECTD4):c.12488A>G (p.Gln4163Arg)	HECTD4 (Q4163R +1 more)	Single nucleotide variant (missense variant)	HECTD4-related disorder	GLikely benign
Select item 2352682	NM_001388303.1(HECTD4):c.11773G>A (p.Ala3925Thr)	HECTD4 (A3935T +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 2636846	NM_001388303.1(HECTD4):c.10877T>C (p.Met3626Thr)	HECTD4 (M3626T +1 more)	Single nucleotide variant (missense variant)	HECTD4-related disorder	GUncertain significance
Select item 2637394	NM_001388303.1(HECTD4):c.10632CAGCCTGGG[1] (p.3545SLG[1])	HECTD4	Microsatellite (inframe_deletion)	HECTD4-related disorder	GUncertain significance
Select item 3054680	NM_001388303.1(HECTD4):c.10566G>A (p.Pro3522=)	HECTD4	Single nucleotide variant (synonymous variant)	HECTD4-related disorder	GLikely benign
Select item 2631742	NM_001388303.1(HECTD4):c.10100T>C (p.Leu3367Pro)	HECTD4 (L3367P +1 more)	Single nucleotide variant (missense variant)	HECTD4-related disorder	GUncertain significance
Select item 2632153	NM_001388303.1(HECTD4):c.9716C>T (p.Ser3239Phe)	HECTD4 (S3239F +1 more)	Single nucleotide variant (missense variant)	HECTD4-related disorder	GUncertain significance
Select item 3032279	NM_001388303.1(HECTD4):c.9118G>T (p.Val3040Leu)	HECTD4 (V3040L +1 more)	Single nucleotide variant (missense variant)	HECTD4-related disorder	GUncertain significance
Select item 3031709	NM_001388303.1(HECTD4):c.9074G>C (p.Gly3025Ala)	HECTD4 (G3025A +1 more)	Single nucleotide variant (missense variant)	HECTD4-related disorder	GUncertain significance
Select item 2630947	NM_001388303.1(HECTD4):c.7826G>A (p.Gly2609Glu)	HECTD4 (G2609E +2 more)	Single nucleotide variant (missense variant)	HECTD4-related disorder	GUncertain significance
Select item 2635941	NM_001388303.1(HECTD4):c.7697A>G (p.Asn2566Ser)	HECTD4 (N2566S +2 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 2628413	NM_001388303.1(HECTD4):c.6805T>G (p.Ser2269Ala)	HECTD4 (S2269A +1 more)	Single nucleotide variant (missense variant)	HECTD4-related disorder	GUncertain significance
Select item 3038357	NM_001388303.1(HECTD4):c.5749A>T (p.Thr1917Ser)	HECTD4 (T1917S +1 more)	Single nucleotide variant (missense variant)	HECTD4-related disorder	GLikely benign
Select item 2643338	NM_001388303.1(HECTD4):c.4864G>A (p.Val1622Met)	HECTD4 (V1622M +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely benign
Select item 3029476	NM_001388303.1(HECTD4):c.3767C>T (p.Pro1256Leu)	HECTD4 (P1256L +1 more)	Single nucleotide variant (missense variant)	HECTD4-related disorder	GUncertain significance
Select item 3050654	NM_001388303.1(HECTD4):c.3448-17dup	HECTD4 (S1155fs)	Duplication (frameshift variant +1 more)	HECTD4-related disorder	GLikely benign
Select item 3038847	NM_001388303.1(HECTD4):c.2864G>A (p.Arg955His)	HECTD4 (R955H)	Single nucleotide variant (missense variant)	HECTD4-related disorder	GLikely benign
Select item 3031633	NM_001388303.1(HECTD4):c.2448T>A (p.Ala816=)	HECTD4	Single nucleotide variant (synonymous variant)	HECTD4-related disorder	GLikely benign
Select item 2629601	NM_001388303.1(HECTD4):c.1376G>T (p.Arg459Leu)	HECTD4 (R459L)	Single nucleotide variant (missense variant)	HECTD4-related disorder	GUncertain significance
Select item 2629929	NM_001388303.1(HECTD4):c.884A>G (p.Asp295Gly)	HECTD4 (D295G)	Single nucleotide variant (missense variant)	HECTD4-related disorder	GUncertain significance
Select item 2634251	NM_001388303.1(HECTD4):c.786G>T (p.Arg262Ser)	HECTD4 (R262S)	Single nucleotide variant (missense variant)	HECTD4-related disorder	GUncertain significance

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Items: 22