"GeneDx"[submitter] AND "HYCC1"[gene] - ClinVar

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Items: 38

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59679	GRCh38/hg38 7p21.2-15.2(chr7:16234212-26167278)x3	ABCB5, AGR2 +287 more	Copy number gain	See cases	GPathogenic
Select item 144929	GRCh38/hg38 7p21.1-15.2(chr7:20210912-27849400)x1	LOC111365192, LOC111413014 +281 more	Copy number loss	See cases	GPathogenic
Select item 359762	NM_032581.4(HYCC1):c.*241T>C	HYCC1	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign
Select item 359764	NM_032581.4(HYCC1):c.*198T>G	HYCC1	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign
Select item 430052	NM_032581.4(HYCC1):c.1492A>G (p.Thr498Ala)	HYCC1 (T498A)	Single nucleotide variant (3 prime UTR variant +1 more)	Hypomyelination and Congenital Cataract +1 more	GConflicting classifications of pathogenicity
Select item 432657	NM_032581.4(HYCC1):c.1201T>C (p.Cys401Arg)	HYCC1 (C401R)	Single nucleotide variant (3 prime UTR variant +1 more)	Hypomyelination and Congenital Cataract +1 more	GBenign/Likely benign
Select item 359772	NM_032581.4(HYCC1):c.1171G>C (p.Gly391Arg)	HYCC1 (G391R)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +1 more	GBenign/Likely benign
Select item 1277898	NM_032581.4(HYCC1):c.992-86A>G	HYCC1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1274319	NM_032581.4(HYCC1):c.992-179G>C	HYCC1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2082165	NM_032581.4(HYCC1):c.896G>A (p.Arg299Lys)	HYCC1 (R299K)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1225411	NM_032581.4(HYCC1):c.832-43_832-42insATGTTGATCT	HYCC1	Insertion (intron variant)	not provided	GBenign
Select item 1248028	NM_032581.4(HYCC1):c.831+173A>T	HYCC1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1234208	NM_032581.4(HYCC1):c.831+67AG[4]	HYCC1	Microsatellite (intron variant)	not provided	GBenign
Select item 359778	NM_032581.4(HYCC1):c.766G>C (p.Ala256Pro)	HYCC1 (A256P)	Single nucleotide variant (missense variant)	Hypomyelination and Congenital Cataract +1 more	GUncertain significance
Select item 1279997	NM_032581.4(HYCC1):c.743+295dup	HYCC1	Duplication (intron variant)	not provided	GBenign
Select item 1164898	NM_032581.4(HYCC1):c.743+20C>T	HYCC1	Single nucleotide variant (intron variant)	Hypomyelination and Congenital Cataract +1 more	GBenign/Likely benign
Select item 704056	NM_032581.4(HYCC1):c.650G>A (p.Arg217Gln)	HYCC1 (R217Q)	Single nucleotide variant (missense variant)	Hypomyelination and Congenital Cataract +1 more	GBenign/Likely benign
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 1271454	NM_032581.4(HYCC1):c.627-223T>C	HYCC1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1281946	NM_032581.4(HYCC1):c.627-252C>T	HYCC1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1276647	NM_032581.4(HYCC1):c.626+236C>T	HYCC1	Single nucleotide variant (intron variant)	not provided	GBenign
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 21726	NM_032581.4(HYCC1):c.624A>G (p.Ser208=)	HYCC1	Single nucleotide variant (synonymous variant)	Hypomyelination and Congenital Cataract +2 more	GBenign
Select item 1199682	NM_032581.4(HYCC1):c.531-191A>C	HYCC1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1200944	NM_032581.4(HYCC1):c.530+28C>G	HYCC1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1342765	NM_032581.4(HYCC1):c.530+25dup	HYCC1	Duplication (intron variant)	not provided	GLikely benign
Select item 1251096	NM_032581.4(HYCC1):c.415-103T>C	HYCC1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1272919	NM_032581.4(HYCC1):c.415-220A>G	HYCC1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1166777	NM_032581.4(HYCC1):c.414+19C>T	HYCC1	Single nucleotide variant (intron variant)	Hypomyelination and Congenital Cataract +1 more	GBenign
Select item 430054	NM_032581.4(HYCC1):c.229C>T (p.Gln77Ter)	HYCC1 (Q77*)	Single nucleotide variant (nonsense)	not provided	GLikely pathogenic
Select item 701831	NM_032581.4(HYCC1):c.191A>G (p.Tyr64Cys)	HYCC1 (Y64C)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1305628	NM_032581.4(HYCC1):c.158T>G (p.Leu53Arg)	HYCC1 (L53R)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 1251391	NM_032581.4(HYCC1):c.154-251C>T	HYCC1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 450984	NM_032581.4(HYCC1):c.125dup (p.Tyr42Ter)	HYCC1 (Y42*)	Duplication (nonsense)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 1277807	NM_032581.4(HYCC1):c.52-290T>G	HYCC1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1214440	NM_032581.4(HYCC1):c.52-299_52-295del	HYCC1	Deletion (intron variant)	not provided	GLikely benign
Select item 1190258	NM_032581.4(HYCC1):c.51+77T>A	HYCC1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 253643	GRCh37/hg19 7p15.3-14.3(chr7:22935369-32621975)x1	ADCYAP1R1, AQP1 +68 more	Copy number loss	See cases	GPathogenic

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Items: 38