ClinVar for Gene (Select 148738) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3284394	NM_213653.4(HJV):c.458G>T (p.Arg153Leu)	HJV (R153L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3284391	NM_213653.4(HJV):c.283C>T (p.Arg95Cys)	HJV (R95C)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3284390	NM_213653.4(HJV):c.386C>T (p.Pro129Leu)	HJV (P129L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3284389	NM_213653.4(HJV):c.218G>A (p.Gly73Glu)	HJV (G73E)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3248094	NC_000001.10:g.(?_145414782)_(145416936_?)del	HJV	Deletion	not provided	GPathogenic
Select item 3242277	GRCh37/hg19 1q21.1(chr1:145382834-145830864)x1	ANKRD34A, ANKRD35 +14 more	Copy number loss	not provided	GPathogenic
Select item 3242276	GRCh37/hg19 1q21.1(chr1:145382713-145831179)x3	ANKRD34A, ANKRD35 +14 more	Copy number gain	not provided	GUncertain significance
Select item 3148893	GRCh37/hg19 1q21.1-21.2(chr1:144055163-148789835)x3	ACP6, ANKRD34A +35 more	Copy number gain	See cases	GPathogenic
Select item 3148875	GRCh37/hg19 1q21.1-21.2(chr1:144055163-149664300)x3	ACP6, ANKRD34A +39 more	Copy number gain	See cases	GPathogenic
Select item 3106095	NM_213653.4(HJV):c.956G>C (p.Gly319Ala)	HJV (G206A +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3106094	NM_213653.4(HJV):c.863G>A (p.Arg288Gln)	HJV (R288Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3106093	NM_213653.4(HJV):c.770G>A (p.Arg257Gln)	HJV (R144Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3106092	NM_213653.4(HJV):c.622A>G (p.Met208Val)	HJV (M95V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3106091	NM_213653.4(HJV):c.488G>A (p.Gly163Glu)	HJV (G163E +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3106090	NM_213653.4(HJV):c.419C>T (p.Ser140Phe)	HJV (S27F +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3106089	NM_213653.4(HJV):c.392G>C (p.Arg131Pro)	HJV (R131P +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3106088	NM_213653.4(HJV):c.371C>T (p.Pro124Leu)	HJV (P11L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3106087	NM_213653.4(HJV):c.217G>C (p.Gly73Arg)	HJV (G73R)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3106086	NM_213653.4(HJV):c.209G>T (p.Arg70Leu)	HJV (R70L)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3106085	NM_213653.4(HJV):c.140T>C (p.Val47Ala)	HJV (V47A)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
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
Select item 3106083	NM_213653.4(HJV):c.1051C>T (p.Leu351Phe)	HJV (L238F +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3106082	NM_213653.4(HJV):c.1001G>A (p.Arg334His)	HJV (R108H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3068589	NM_213653.4(HJV):c.127_146del (p.Asn43fs)	HJV (N43fs)	Deletion (frameshift variant +3 more)	Hemochromatosis type 2A	GPathogenic
Select item 3063144	GRCh37/hg19 1q21.1(chr1:145406357-145430360)x1	HJV	Copy number loss	not specified	GUncertain significance
Select item 3062988	GRCh37/hg19 1q21.1-23.1(chr1:144368497-158992086)x3	ACP6, ADAM15 +315 more	Copy number gain	not specified	GPathogenic
Select item 3062018	Single allele	ANKRD34A, ANKRD35 +14 more	Deletion	not provided	GPathogenic
Select item 3030232	NM_213653.4(HJV):c.-89-1G>C	HJV	Single nucleotide variant (5 prime UTR variant +2 more)	HJV-related disorder	GUncertain significance
Select item 3022779	NM_213653.4(HJV):c.658-16C>T	HJV	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3019451	NM_213653.4(HJV):c.1143G>A (p.Leu381=)	HJV	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3017402	NM_213653.4(HJV):c.87C>T (p.Leu29=)	HJV	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GLikely benign
Select item 3011379	NM_213653.4(HJV):c.934C>T (p.Gln312Ter)	HJV (Q199* +2 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 3011310	NM_213653.4(HJV):c.97+20G>C	HJV	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3007974	NM_213653.4(HJV):c.108A>G (p.Gln36=)	HJV	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GLikely benign
Select item 2995113	NM_213653.4(HJV):c.165T>C (p.Gly55=)	HJV	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2978830	NM_213653.4(HJV):c.143C>A (p.Ser48Ter)	HJV (S48*)	Single nucleotide variant (nonsense +2 more)	not provided	GPathogenic
Select item 2971256	NM_213653.4(HJV):c.207C>A (p.Gly69=)	HJV	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2964358	NM_213653.4(HJV):c.810T>C (p.Pro270=)	HJV	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2919242	NM_213653.4(HJV):c.97+20G>T	HJV	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2918293	NM_213653.4(HJV):c.769C>T (p.Arg257Ter)	HJV (R144* +2 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2915161	NM_213653.4(HJV):c.318G>T (p.Ala106=)	HJV	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2913714	NM_213653.4(HJV):c.391C>A (p.Arg131=)	HJV	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2913355	NM_213653.4(HJV):c.657+13A>C	HJV	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2912475	NM_213653.4(HJV):c.1071C>T (p.Tyr357=)	HJV	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2912052	NM_213653.4(HJV):c.658-12_658-11del	HJV	Deletion (intron variant)	not provided	GLikely benign
Select item 2909187	NM_213653.4(HJV):c.9G>A (p.Glu3=)	HJV	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GLikely benign
Select item 2907290	NM_213653.4(HJV):c.520dup (p.His174fs)	HJV (H174fs +1 more)	Duplication (frameshift variant +1 more)	not provided	GPathogenic
Select item 2906235	NM_213653.4(HJV):c.231C>T (p.Gly77=)	HJV	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2904744	NM_213653.4(HJV):c.513G>T (p.Gly171=)	HJV	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2901078	NM_213653.4(HJV):c.1142T>G (p.Leu381Arg)	HJV (L268R +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2897455	NM_213653.4(HJV):c.1197A>G (p.Ser399=)	HJV	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2893013	NM_213653.4(HJV):c.693T>C (p.Ile231=)	HJV	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2892461	NM_213653.4(HJV):c.18G>A (p.Gln6=)	HJV	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GLikely benign
Select item 2885394	NM_213653.4(HJV):c.658-14T>G	HJV	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2879549	NM_213653.4(HJV):c.378C>T (p.Ala126=)	HJV	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2879463	NM_213653.4(HJV):c.576T>G (p.Pro192=)	HJV	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2870816	NM_213653.4(HJV):c.279C>T (p.Thr93=)	HJV	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2867419	NM_213653.4(HJV):c.261G>C (p.Ala87=)	HJV	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2867050	NM_213653.4(HJV):c.654G>C (p.Arg218=)	HJV	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2865739	NM_213653.4(HJV):c.363C>G (p.Arg121=)	HJV	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2864770	NM_213653.4(HJV):c.777G>A (p.Gly259=)	HJV	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2858178	NM_213653.4(HJV):c.97+7_97+10del	HJV	Microsatellite (intron variant)	not provided	GLikely benign
Select item 2855966	NM_213653.4(HJV):c.658-15C>T	HJV	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2853350	NM_213653.4(HJV):c.81del (p.Leu28fs)	HJV (L28fs)	Deletion (intron variant +2 more)	not provided	GPathogenic
Select item 2848556	NM_213653.4(HJV):c.357C>A (p.Cys119Ter)	HJV (C119* +1 more)	Single nucleotide variant (nonsense +1 more)	not provided	GPathogenic
Select item 2842965	NM_213653.4(HJV):c.97+2T>A	HJV	Single nucleotide variant (intron variant +1 more)	not provided	GLikely pathogenic
Select item 2840404	NM_213653.4(HJV):c.579A>C (p.Leu193=)	HJV	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2839957	NM_213653.4(HJV):c.387G>T (p.Pro129=)	HJV	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2833553	NM_213653.4(HJV):c.543C>T (p.His181=)	HJV	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2832737	NM_213653.4(HJV):c.402C>G (p.Ala134=)	HJV	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2827212	NM_213653.4(HJV):c.759T>C (p.Asn253=)	HJV	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2827121	NM_213653.4(HJV):c.192A>C (p.Gly64=)	HJV	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2826644	NM_213653.4(HJV):c.321A>T (p.Val107=)	HJV	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2824261	NM_213653.4(HJV):c.297G>C (p.Gly99=)	HJV	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2818370	NM_213653.4(HJV):c.537C>T (p.His179=)	HJV	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2810640	NM_213653.4(HJV):c.318G>C (p.Ala106=)	HJV	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2804351	NM_213653.4(HJV):c.97+19A>G	HJV	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2800119	NM_213653.4(HJV):c.657+14T>C	HJV	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2797245	NM_213653.4(HJV):c.658-5C>T	HJV	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2794662	NM_213653.4(HJV):c.393G>A (p.Arg131=)	HJV	Single nucleotide variant (intron variant +1 more)	not provided	GLikely benign
Select item 2792148	NM_213653.4(HJV):c.315G>A (p.Ser105=)	HJV	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2784264	NM_213653.4(HJV):c.1248T>C (p.Ser416=)	HJV	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2782974	NM_213653.4(HJV):c.411C>A (p.Gly137=)	HJV	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2779021	NM_213653.4(HJV):c.628T>C (p.Leu210=)	HJV	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2771929	NM_213653.4(HJV):c.97+15G>A	HJV	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2758732	NM_213653.4(HJV):c.285C>T (p.Arg95=)	HJV	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2758613	NM_213653.4(HJV):c.495G>A (p.Leu165=)	HJV	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2752260	NM_213653.4(HJV):c.15C>G (p.Gly5=)	HJV	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GLikely benign
Select item 2741457	NM_213653.4(HJV):c.90T>C (p.Cys30=)	HJV	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GLikely benign
Select item 2738466	NM_213653.4(HJV):c.98-14C>T	HJV	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2733978	NM_213653.4(HJV):c.962_963delinsAA (p.Cys321Ter)	HJV (C208* +2 more)	Indel (nonsense)	not provided	GPathogenic
Select item 2733977	NM_213653.4(HJV):c.960dup (p.Cys321fs)	HJV (C208fs +2 more)	Duplication (frameshift variant)	Hemochromatosis type 2A +1 more	GPathogenic
Select item 2733976	NM_213653.4(HJV):c.265T>C (p.Cys89Arg)	HJV (C89R)	Single nucleotide variant (missense variant +2 more)	not provided	GLikely pathogenic
Select item 2733975	NM_213653.4(HJV):c.196G>T (p.Gly66Ter)	HJV (G66*)	Single nucleotide variant (nonsense +2 more)	not provided	GPathogenic
Select item 2730649	NM_213653.4(HJV):c.513G>C (p.Gly171=)	HJV	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2728612	NM_213653.4(HJV):c.658-12T>C	HJV	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2722952	NM_213653.4(HJV):c.605A>G (p.Gln202Arg)	HJV (Q202R +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2718690	NM_213653.4(HJV):c.658-13C>G	HJV	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2709553	NM_213653.4(HJV):c.1260T>C (p.Val420=)	HJV	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2700997	NM_213653.4(HJV):c.1029C>T (p.Ala343=)	HJV	Single nucleotide variant (synonymous variant)	not provided	GLikely benign

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