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

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 36

	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)	not provided +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)	Hypomyelination and Congenital Cataract +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)	HYCC1-related disorder +2 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)	Inborn genetic diseases +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)	Inborn genetic diseases +1 more	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)	not provided +2 more	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

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 36