HJV[gene] - ClinVar - NCBI

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

Search results

Items: 1 to 100 of 574

<< First< Prev

Page of 6

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 57409	GRCh38/hg38 1p11.2-q22(chr1:120836007-149583533)x3	BCL9, LINC00623 +213 more	Copy number gain	See cases	GPathogenic
Select item 153061	GRCh38/hg38 1q21.1-21.2(chr1:143515074-149076087)x1	ACP6, ANKRD34A +178 more	Copy number loss	See cases	GPathogenic
Select item 150976	GRCh38/hg38 1q21.1-21.2(chr1:143515074-149563337)x1	LOC129931352, LOC129931353 +183 more	Copy number loss	See cases	GPathogenic
Select item 148361	GRCh38/hg38 1q21.1-21.2(chr1:143515074-149076087)x1	ACP6, ANKRD34A +179 more	Copy number loss	See cases	GPathogenic
Select item 147710	GRCh38/hg38 1q21.1-21.2(chr1:143515074-149076087)x3	ACP6, ANKRD34A +178 more	Copy number gain	See cases	GPathogenic
Select item 58491	GRCh38/hg38 1q21.1-21.2(chr1:143515074-149076087)x1	LOC126805854, LOC128071544 +179 more	Copy number loss	See cases	GPathogenic
Select item 58089	GRCh38/hg38 1q21.1-21.2(chr1:143965076-149471555)x3	ACP6, ANKRD34A +168 more	Copy number gain	See cases	GPathogenic
Select item 153066	GRCh38/hg38 1q21.1-21.2(chr1:144572470-149076087)x1	ACP6, ANKRD34A +153 more	Copy number loss	See cases	GLikely pathogenic
Select item 152031	GRCh38/hg38 1q21.1-21.2(chr1:144572470-149076087)x1	ACP6, ANKRD34A +153 more	Copy number loss	See cases	GPathogenic
Select item 148573	GRCh38/hg38 1q21.1-21.2(chr1:144572470-149076087)x3	LOC126805853, LOC126805854 +153 more	Copy number gain	See cases	GPathogenic
Select item 146808	GRCh38/hg38 1q21.1-21.2(chr1:144572470-149076087)x3	ACP6, ANKRD34A +153 more	Copy number gain	See cases	GPathogenic
Select item 59351	GRCh38/hg38 1q21.1-21.2(chr1:144572470-149076087)x3	ACP6, ANKRD34A +153 more	Copy number gain	See cases	GPathogenic
Select item 59349	GRCh38/hg38 1q21.1-21.2(chr1:144572470-149076087)x3	ACP6, ANKRD34A +153 more	Copy number gain	See cases	GPathogenic
Select item 145369	GRCh38/hg38 1q21.1(chr1:145138148-146401981)x1	ANKRD34A, ANKRD35 +73 more	Copy number loss	See cases	GBenign
Select item 160968	GRCh38/hg38 1q21.1-21.2(chr1:145215697-149076087)x1	ACP6, ANKRD34A +143 more	Copy number loss	See cases	GPathogenic
Select item 160952	GRCh38/hg38 1q21.1-21.2(chr1:145215697-149076087)x1	ACP6, ANKRD34A +143 more	Copy number loss	See cases	GPathogenic
Select item 160925	GRCh38/hg38 1q21.1-21.2(chr1:145215697-149076087)x3	ACP6, ANKRD34A +143 more	Copy number gain	See cases	GPathogenic
Select item 154737	GRCh38/hg38 1q21.1-21.2(chr1:145215697-149076087)x3	ACP6, ANKRD34A +143 more	Copy number gain	See cases	GPathogenic
Select item 154599	GRCh38/hg38 1q21.1-21.2(chr1:145215697-149076087)x3	ACP6, ANKRD34A +143 more	Copy number gain	See cases	GPathogenic
Select item 154444	GRCh38/hg38 1q21.1-21.2(chr1:145215697-149076087)x1	ACP6, ANKRD34A +143 more	Copy number loss	See cases	GPathogenic
Select item 154413	GRCh38/hg38 1q21.1-21.2(chr1:145215697-149076087)x1	LOC101927468, LOC106783502 +143 more	Copy number loss	See cases	GPathogenic
Select item 149420	GRCh38/hg38 1q21.1-21.2(chr1:145215697-149076087)x4	ACP6, ANKRD34A +143 more	Copy number gain	See cases	GPathogenic
Select item 148485	GRCh38/hg38 1q21.1-21.2(chr1:145215697-149076087)x3	LOC129931329, LOC129931330 +143 more	Copy number gain	See cases	GPathogenic
Select item 59354	GRCh38/hg38 1q21.1-21.2(chr1:145215697-149076087)x3	ACP6, ANKRD34A +143 more	Copy number gain	See cases	GPathogenic
Select item 59337	GRCh38/hg38 1q21.1-21.2(chr1:145215697-148492647)x3	ACP6, ANKRD34A +129 more	Copy number gain	See cases	GPathogenic
Select item 58488	GRCh38/hg38 1q21.1-21.2(chr1:145215697-148534530)x1	ACP6, ANKRD34A +136 more	Copy number loss	See cases	GPathogenic
Select item 57209	GRCh38/hg38 1q21.1-21.2(chr1:145215697-149076087)x3	ACP6, ANKRD34A +143 more	Copy number gain	See cases	GPathogenic
Select item 33116	GRCh38/hg38 1q21.1-21.2(chr1:145215697-149076087)x1	MIR5087, MIR6077 +143 more	Copy number loss	See cases	GPathogenic
Select item 32153	GRCh38/hg38 1q21.1-21.2(chr1:145215697-149076087)x3	ACP6, ANKRD34A +143 more	Copy number gain	See cases	GPathogenic/Likely pathogenic
Select item 149419	GRCh38/hg38 1q21.1-21.2(chr1:145232830-148587578)x3	ACP6, ANKRD34A +133 more	Copy number gain	See cases	GPathogenic
Select item 144158	GRCh38/hg38 1q21.1-21.2(chr1:145232830-148587578)x3	LOC101927468, LOC106783502 +133 more	Copy number gain	See cases	GPathogenic
Select item 59864	GRCh38/hg38 1q21.1(chr1:145335791-146133507)x1	ANKRD34A, ANKRD35 +61 more	Copy number loss	See cases	GPathogenic
Select item 59860	GRCh38/hg38 1q21.1-21.2(chr1:145335791-146944906)x1	ANKRD34A, ANKRD35 +67 more	Copy number loss	See cases	GPathogenic
Select item 59720	GRCh38/hg38 1q21.1(chr1:145335791-146127929)x3	ANKRD34A, ANKRD35 +61 more	Copy number gain	See cases	GUncertain significance
Select item 59719	GRCh38/hg38 1q21.1(chr1:145335791-146146477)x3	ANKRD34A, ANKRD35 +61 more	Copy number gain	See cases	GUncertain significance
Select item 146027	GRCh38/hg38 1q21.1-21.2(chr1:145338382-148599763)x3	ACP6, ANKRD34A +129 more	Copy number gain	See cases	GPathogenic
Select item 545143	NC_000001.11:g.(?_145430995)_(148427734_?)del	RNVU1-6, RNVU1-7 +118 more	Deletion	Schizophrenia	GPathogenic
Select item 545142	NC_000001.11:g.(?_145430995)_(148257619_?)del	LOC129931347, LOC129931348 +104 more	Deletion	Schizophrenia	GPathogenic
Select item 146422	GRCh38/hg38 1q21.1(chr1:145439580-147036021)x3	ANKRD34A, ANKRD35 +66 more	Copy number gain	See cases	GConflicting classifications of pathogenicity
Select item 35076	GRCh38/hg38 1q21.1-21.2(chr1:145439580-148359881)x1	ACP6, ANKRD34A +115 more	Copy number loss	See cases	GPathogenic
Select item 545144	NC_000001.11:g.(?_145580669)_(149095000_?)del	ACP6, ANKRD34A +130 more	Deletion	Schizophrenia	GPathogenic
Select item 545148	Single allele	ACP6, ANKRD34A +127 more	Duplication	Schizophrenia	GLikely pathogenic
Select item 545147	Single allele	LOC129931348, LOC129931349 +52 more	Duplication	Schizophrenia	GLikely pathogenic
Select item 545146	NC_000001.11:g.(?_145601945)_(146048346_?)del	ANKRD34A, ANKRD35 +52 more	Deletion	Schizophrenia	GLikely pathogenic
Select item 545145	Single allele	ANKRD34A, ANKRD35 +52 more	Duplication	Schizophrenia	GLikely pathogenic
Select item 692221	NC_000001.11:g.145601946_148597425del	GPR89B, LOC129931326 +123 more	Deletion	Radial aplasia-thrombocytopenia syndrome	GLikely pathogenic
Select item 155155	GRCh38/hg38 1q21.1(chr1:145601946-146065803)x1	ANKRD34A, ANKRD35 +55 more	Copy number loss	See cases	GLikely pathogenic
Select item 153424	GRCh38/hg38 1q21.1(chr1:145601946-146052881)x1	ANKRD34A, ANKRD35 +54 more	Copy number loss	See cases	GLikely benign
Select item 152673	GRCh38/hg38 1q21.1-21.2(chr1:145601946-148572213)x1	ACP6, ANKRD34A +123 more	Copy number loss	See cases	GPathogenic
Select item 150730	GRCh38/hg38 1q21.1(chr1:145601946-146046631)x1	ANKRD34A, ANKRD35 +52 more	Copy number loss	See cases	GPathogenic
Select item 148600	GRCh38/hg38 1q21.1(chr1:145601946-146019823)x1	ANKRD34A, ANKRD35 +44 more	Copy number loss	See cases	GPathogenic
Select item 146009	GRCh38/hg38 1q21.1-21.2(chr1:145601946-148572213)x1	ACP6, ANKRD34A +123 more	Copy number loss	See cases	GPathogenic
Select item 59869	GRCh38/hg38 1q21.1(chr1:145601946-146046645)x1	ANKRD34A, ANKRD35 +52 more	Copy number loss	See cases	GPathogenic
Select item 59353	GRCh38/hg38 1q21.1-21.2(chr1:145601946-146944906)x3	ANKRD34A, ANKRD35 +61 more	Copy number gain	See cases	GPathogenic
Select item 59352	GRCh38/hg38 1q21.1-21.2(chr1:145601946-146944906)x3	ANKRD34A, ANKRD35 +61 more	Copy number gain	See cases	GPathogenic
Select item 58494	GRCh38/hg38 1q21.1-21.2(chr1:145601946-146944906)x1	ANKRD34A, ANKRD35 +61 more	Copy number loss	See cases	GPathogenic
Select item 155534	GRCh38/hg38 1q21.1(chr1:145605589-146057729)x1	ANKRD34A, ANKRD35 +54 more	Copy number loss	See cases	GUncertain significance
Select item 59870	GRCh38/hg38 1q21.1(chr1:145609216-146046645)x1	ANKRD34A, ANKRD35 +50 more	Copy number loss	See cases	GPathogenic
Select item 59872	GRCh38/hg38 1q21.1(chr1:145625047-146021303)x1	ANKRD34A, ANKRD35 +42 more	Copy number loss	See cases	GPathogenic
Select item 2499625	GRCh38/hg38 1q21.1(chr1:145635432-146019857)	ANKRD34A, ANKRD35 +42 more	Copy number loss	See cases	GUncertain significance
Select item 144668	GRCh38/hg38 1q21.1(chr1:145635432-146019857)x3	ANKRD34A, ANKRD35 +42 more	Copy number gain	See cases	Gconflicting data from submitters
Select item 59871	GRCh38/hg38 1q21.1(chr1:145635445-146046645)x1	ANKRD34A, ANKRD35 +50 more	Copy number loss	See cases	GPathogenic
Select item 154041	GRCh38/hg38 1q21.1(chr1:145642988-146047980)x1	ANKRD34A, ANKRD35 +50 more	Copy number loss	See cases	GUncertain significance
Select item 146687	GRCh38/hg38 1q21.1(chr1:145646117-146019823)x1	TXNIP, ANKRD34A +42 more	Copy number loss	See cases	GLikely pathogenic
Select item 59867	GRCh38/hg38 1q21.1(chr1:145688094-146046645)x1	ANKRD34A, ANKRD35 +49 more	Copy number loss	See cases	GPathogenic
Select item 146028	GRCh38/hg38 1q21.1(chr1:145688153-146166380)x3	ANKRD34A, ANKRD35 +53 more	Copy number gain	See cases	GPathogenic
Select item 146163	GRCh38/hg38 1q21.1(chr1:145691625-146082575)x3	ANKRD34A, ANKRD35 +52 more	Copy number gain	See cases	GLikely pathogenic
Select item 2579208	GRCh38/hg38 1q21.1(chr1:145822587-146064587)x1	ANKRD34A, ANKRD35 +47 more	Copy number loss	Radial aplasia-thrombocytopenia syndrome	GPathogenic
Select item 144801	GRCh38/hg38 1q21.1(chr1:146004406-146046645)x3	HJV, LOC129931347 +7 more	Copy number gain	See cases	GBenign
Select item 875020	NM_213653.4(HJV):c.*574A>T	HJV	Single nucleotide variant (3 prime UTR variant)	Hemochromatosis type 2A	GUncertain significance
Select item 875019	NM_213653.4(HJV):c.*372A>G	HJV	Single nucleotide variant (3 prime UTR variant)	Hemochromatosis type 2A	GUncertain significance
Select item 292435	NM_213653.4(HJV):c.*288A>C	HJV	Single nucleotide variant (3 prime UTR variant)	Hemochromatosis type 2A	GUncertain significance
Select item 875018	NM_213653.4(HJV):c.*198G>A	HJV	Single nucleotide variant (3 prime UTR variant)	Hemochromatosis type 2A	GUncertain significance
Select item 875017	NM_213653.4(HJV):c.*197G>A	HJV	Single nucleotide variant (3 prime UTR variant)	Hemochromatosis type 2A	GUncertain significance
Select item 875016	NM_213653.4(HJV):c.*190G>A	HJV	Single nucleotide variant (3 prime UTR variant)	Hemochromatosis type 2A	GUncertain significance
Select item 1078816	NM_213653.4(HJV):c.1275T>C (p.Ile425=)	HJV	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1907254	NM_213653.4(HJV):c.1266G>A (p.Trp422Ter)	HJV (W309* +2 more)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 216846	NM_213653.4(HJV):c.1264T>C (p.Trp422Arg)	HJV (W422R +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2709553	NM_213653.4(HJV):c.1260T>C (p.Val420=)	HJV	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 292434	NM_213653.4(HJV):c.1257T>G (p.Phe419Leu)	HJV (F419L +2 more)	Single nucleotide variant (missense variant)	Hemochromatosis type 2A +1 more	GUncertain significance
Select item 292433	NM_213653.4(HJV):c.1254C>G (p.Leu418=)	HJV	Single nucleotide variant (synonymous variant)	Hemochromatosis type 2A	GUncertain significance
Select item 2784264	NM_213653.4(HJV):c.1248T>C (p.Ser416=)	HJV	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1199284	NM_213653.4(HJV):c.1238C>T (p.Pro413Leu)	HJV (P187L +2 more)	Single nucleotide variant (missense variant)	Hemochromatosis type 2A	GUncertain significance
Select item 1139010	NM_213653.4(HJV):c.1227C>A (p.Thr409=)	HJV	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1084752	NM_213653.4(HJV):c.1227C>T (p.Thr409=)	HJV	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1567842	NM_213653.4(HJV):c.1206G>A (p.Gly402=)	HJV	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1092098	NM_213653.4(HJV):c.1206G>T (p.Gly402=)	HJV	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2897455	NM_213653.4(HJV):c.1197A>G (p.Ser399=)	HJV	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 752678	NM_213653.4(HJV):c.1194C>G (p.Pro398=)	HJV	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1160011	NM_213653.4(HJV):c.1191C>T (p.Phe397=)	HJV	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1088576	NM_213653.4(HJV):c.1188C>G (p.Leu396=)	HJV	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1545867	NM_213653.4(HJV):c.1182G>A (p.Leu394=)	HJV	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2539549	NM_213653.4(HJV):c.1178A>G (p.Lys393Arg)	HJV (K167R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1115321	NM_213653.4(HJV):c.1176G>A (p.Glu392=)	HJV	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 752433	NM_213653.4(HJV):c.1164G>A (p.Leu388=)	HJV	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1535702	NM_213653.4(HJV):c.1162C>T (p.Leu388=)	HJV	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1621228	NM_213653.4(HJV):c.1153C>A (p.Arg385=)	HJV	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1066333	NM_213653.4(HJV):c.1153C>T (p.Arg385Ter)	HJV (R159* +2 more)	Single nucleotide variant (nonsense)	not provided	GLikely pathogenic
Select item 1575621	NM_213653.4(HJV):c.1152C>T (p.Ala384=)	HJV	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3106084	NM_213653.4(HJV):c.1150G>T (p.Ala384Ser)	HJV (A271S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

<< First< Prev

Page of 6