"Ambry Genetics"[submitter] AND "HYCC1"[gene] - ClinVar

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Items: 38

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 800218	NM_032581.4(HYCC1):c.1519G>C (p.Gly507Arg)	HYCC1 (G507R)	Single nucleotide variant (3 prime UTR variant +1 more)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 359770	NM_032581.4(HYCC1):c.1480G>A (p.Val494Ile)	HYCC1 (V494I)	Single nucleotide variant (3 prime UTR variant +1 more)	Inborn genetic diseases +2 more	GUncertain significance
Select item 3107691	NM_032581.4(HYCC1):c.1345G>A (p.Val449Ile)	HYCC1 (V449I)	Single nucleotide variant (3 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 536257	NM_032581.4(HYCC1):c.1339G>A (p.Ala447Thr)	HYCC1 (A447T)	Single nucleotide variant (3 prime UTR variant +1 more)	Hypomyelination and Congenital Cataract +1 more	GLikely benign
Select item 2510008	NM_032581.4(HYCC1):c.1336G>A (p.Ala446Thr)	HYCC1 (A446T)	Single nucleotide variant (3 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2523085	NM_032581.4(HYCC1):c.1235G>C (p.Arg412Thr)	HYCC1 (R412T)	Single nucleotide variant (3 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 359771	NM_032581.4(HYCC1):c.1220G>A (p.Arg407Gln)	HYCC1 (R407Q)	Single nucleotide variant (3 prime UTR variant +1 more)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 3107690	NM_032581.4(HYCC1):c.1219C>T (p.Arg407Ter)	HYCC1 (R407*)	Single nucleotide variant (3 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2540175	NM_032581.4(HYCC1):c.1172G>A (p.Gly391Glu)	HYCC1 (G391E)	Single nucleotide variant (3 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 910079	NM_032581.4(HYCC1):c.1148G>A (p.Arg383Gln)	HYCC1 (R383Q)	Single nucleotide variant (3 prime UTR variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2469190	NM_032581.4(HYCC1):c.1147C>T (p.Arg383Trp)	HYCC1 (R383W)	Single nucleotide variant (3 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 910080	NM_032581.4(HYCC1):c.1135A>G (p.Lys379Glu)	HYCC1 (K379E)	Single nucleotide variant (3 prime UTR variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2063675	NM_032581.4(HYCC1):c.1130T>C (p.Ile377Thr)	HYCC1 (I377T)	Single nucleotide variant (3 prime UTR variant +1 more)	Hypomyelination and Congenital Cataract +1 more	GUncertain significance
Select item 2522013	NM_032581.4(HYCC1):c.1127G>A (p.Ser376Asn)	HYCC1 (S376N)	Single nucleotide variant (3 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 702183	NM_032581.4(HYCC1):c.1064C>T (p.Ala355Val)	HYCC1 (A355V)	Single nucleotide variant (3 prime UTR variant +1 more)	Hypomyelination and Congenital Cataract +1 more	GLikely benign
Select item 3107689	NM_032581.4(HYCC1):c.1010G>A (p.Gly337Asp)	HYCC1 (G337D)	Single nucleotide variant (3 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 573690	NM_032581.4(HYCC1):c.932G>A (p.Arg311Gln)	HYCC1 (R311Q)	Single nucleotide variant (missense variant)	Hypomyelination and Congenital Cataract +1 more	GUncertain significance
Select item 3107700	NM_032581.4(HYCC1):c.915C>G (p.Ile305Met)	HYCC1 (I305M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2070517	NM_032581.4(HYCC1):c.878C>T (p.Ser293Phe)	HYCC1 (S293F)	Single nucleotide variant (missense variant)	Hypomyelination and Congenital Cataract +1 more	GUncertain significance
Select item 1163861	NM_032581.4(HYCC1):c.864T>G (p.His288Gln)	HYCC1 (H288Q)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 3107699	NM_032581.4(HYCC1):c.850G>A (p.Ala284Thr)	HYCC1 (A284T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2533800	NM_032581.4(HYCC1):c.799G>A (p.Ala267Thr)	HYCC1 (A267T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1450378	NM_032581.4(HYCC1):c.775G>A (p.Ala259Thr)	HYCC1 (A259T)	Single nucleotide variant (missense variant)	Hypomyelination and Congenital Cataract +1 more	GUncertain significance
Select item 3285120	NM_032581.4(HYCC1):c.691C>A (p.Pro231Thr)	HYCC1 (P231T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2553833	NM_032581.4(HYCC1):c.686G>A (p.Arg229Lys)	HYCC1 (R229K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3107698	NM_032581.4(HYCC1):c.674G>T (p.Gly225Val)	HYCC1 (G225V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1220438	NM_032581.4(HYCC1):c.628A>G (p.Ile210Val)	HYCC1 (I210V)	Single nucleotide variant (missense variant)	Hypomyelination and Congenital Cataract +2 more	GUncertain significance
Select item 359779	NM_032581.4(HYCC1):c.626+5A>G	HYCC1	Single nucleotide variant (intron variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 3285119	NM_032581.4(HYCC1):c.590G>C (p.Ser197Thr)	HYCC1 (S197T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3107697	NM_032581.4(HYCC1):c.586C>T (p.Pro196Ser)	HYCC1 (P196S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3107696	NM_032581.4(HYCC1):c.569C>T (p.Ala190Val)	HYCC1 (A190V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3107695	NM_032581.4(HYCC1):c.478G>C (p.Val160Leu)	HYCC1 (V160L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 359782	NM_032581.4(HYCC1):c.356A>G (p.His119Arg)	HYCC1 (H119R)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 3107693	NM_032581.4(HYCC1):c.322G>C (p.Val108Leu)	HYCC1 (V108L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2542071	NM_032581.4(HYCC1):c.243A>T (p.Glu81Asp)	HYCC1 (E81D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3107692	NM_032581.4(HYCC1):c.134T>C (p.Ile45Thr)	HYCC1 (I45T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 857030	NM_032581.4(HYCC1):c.74C>T (p.Pro25Leu)	HYCC1 (P25L)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 3107694	NM_032581.4(HYCC1):c.37T>G (p.Leu13Val)	HYCC1 (L13V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance

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Items: 38