ZHX3[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 146596	GRCh38/hg38 20p13-q13.33(chr20:99557-64277321)x3	LOC130065566, LOC130065567 +2522 more	Copy number gain	See cases	GPathogenic
Select item 152212	GRCh38/hg38 20q11.22-13.12(chr20:35237946-47631818)x1	LOC130065861, LOC130065862 +568 more	Copy number loss	See cases	GPathogenic
Select item 1266725	NM_001384317.1(ZHX3):c.*102C>T	ZHX3 (P916L)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GBenign
Select item 3015482	NM_001384317.1(ZHX3):c.2861-8C>T	ZHX3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2837788	NM_001384317.1(ZHX3):c.2861-11T>C	ZHX3	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 3003165	NM_001384317.1(ZHX3):c.2861-17A>G	ZHX3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1285731	NM_001384317.1(ZHX3):c.2861-210dup	ZHX3	Duplication (intron variant)	not provided	GBenign
Select item 1657327	NM_001384317.1(ZHX3):c.2860+16G>C	ZHX3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2364557	NM_001384317.1(ZHX3):c.2852G>A (p.Arg951His)	ZHX3 (R951H)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2798512	NM_001384317.1(ZHX3):c.2835G>A (p.Ser945=)	ZHX3	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2889849	NM_001384317.1(ZHX3):c.2770T>A (p.Ser924Thr)	ZHX3 (S924T)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1402056	NM_001384317.1(ZHX3):c.2755A>G (p.Thr919Ala)	ZHX3 (T919A)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2273736	NM_001384317.1(ZHX3):c.2661G>A (p.Met887Ile)	ZHX3 (M887I)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1641680	NM_001384317.1(ZHX3):c.2658A>G (p.Lys886=)	ZHX3	Single nucleotide variant (synonymous variant +1 more)	ZHX3-related condition +1 more	GBenign
Select item 2876617	NM_001384317.1(ZHX3):c.2628C>T (p.Ser876=)	ZHX3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2995560	NM_001384317.1(ZHX3):c.2558A>G (p.Tyr853Cys)	ZHX3 (Y853C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2400928	NM_001384317.1(ZHX3):c.2539C>T (p.Arg847Trp)	ZHX3 (R847W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2301107	NM_001384317.1(ZHX3):c.2537A>T (p.Asn846Ile)	ZHX3 (N846I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2069050	NM_001384317.1(ZHX3):c.2536A>T (p.Asn846Tyr)	ZHX3 (N846Y)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1648036	NM_001384317.1(ZHX3):c.2526T>C (p.Ile842=)	ZHX3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2164969	NM_001384317.1(ZHX3):c.2523C>T (p.Val841=)	ZHX3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2804030	NM_001384317.1(ZHX3):c.2506C>G (p.Pro836Ala)	ZHX3 (P836A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2184795	NM_001384317.1(ZHX3):c.2495G>A (p.Arg832Gln)	ZHX3 (R832Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2890999	NM_001384317.1(ZHX3):c.2482G>A (p.Glu828Lys)	ZHX3 (E828K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1593249	NM_001384317.1(ZHX3):c.2481C>T (p.Tyr827=)	ZHX3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2891598	NM_001384317.1(ZHX3):c.2454A>G (p.Ala818=)	ZHX3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2715254	NM_001384317.1(ZHX3):c.2451C>T (p.Tyr817=)	ZHX3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2766208	NM_001384317.1(ZHX3):c.2290C>G (p.Pro764Ala)	ZHX3 (P764A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1600024	NM_001384317.1(ZHX3):c.2262T>G (p.Asp754Glu)	ZHX3 (D754E)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1653392	NM_001384317.1(ZHX3):c.2249A>T (p.Asp750Val)	ZHX3 (D750V)	Single nucleotide variant (missense variant)	ZHX3-related condition +2 more	GConflicting classifications of pathogenicity
Select item 2165543	NM_001384317.1(ZHX3):c.2242G>A (p.Ala748Thr)	ZHX3 (A748T)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1600692	NM_001384317.1(ZHX3):c.2209G>A (p.Ala737Thr)	ZHX3 (A737T)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2801832	NM_001384317.1(ZHX3):c.2172C>A (p.Pro724=)	ZHX3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1445016	NM_001384317.1(ZHX3):c.2164G>A (p.Val722Ile)	ZHX3 (V722I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2326003	NM_001384317.1(ZHX3):c.2159G>A (p.Arg720His)	ZHX3 (R720H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2075988	NM_001384317.1(ZHX3):c.2150T>C (p.Leu717Ser)	ZHX3 (L717S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3012668	NM_001384317.1(ZHX3):c.2109T>C (p.Ser703=)	ZHX3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2478395	NM_001384317.1(ZHX3):c.2108C>G (p.Ser703Cys)	ZHX3 (S703C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1365145	NM_001384317.1(ZHX3):c.2107T>C (p.Ser703Pro)	ZHX3 (S703P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2217459	NM_001384317.1(ZHX3):c.2090C>T (p.Ala697Val)	ZHX3 (A697V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2061735	NM_001384317.1(ZHX3):c.2082G>T (p.Glu694Asp)	ZHX3 (E694D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2302415	NM_001384317.1(ZHX3):c.2074G>A (p.Gly692Arg)	ZHX3 (G692R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1588253	NM_001384317.1(ZHX3):c.2070G>A (p.Glu690=)	ZHX3	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1466066	NM_001384317.1(ZHX3):c.2033A>G (p.Asn678Ser)	ZHX3 (N678S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2960095	NM_001384317.1(ZHX3):c.2018A>G (p.Lys673Arg)	ZHX3 (K673R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1583961	NM_001384317.1(ZHX3):c.2011G>A (p.Glu671Lys)	ZHX3 (E671K)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely benign
Select item 2274081	NM_001384317.1(ZHX3):c.2010G>T (p.Glu670Asp)	ZHX3 (E670D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2274080	NM_001384317.1(ZHX3):c.2009A>C (p.Glu670Ala)	ZHX3 (E670A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2189472	NM_001384317.1(ZHX3):c.1941T>A (p.Ser647Arg)	ZHX3 (S647R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2711752	NM_001384317.1(ZHX3):c.1929C>T (p.Asp643=)	ZHX3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2184344	NM_001384317.1(ZHX3):c.1857A>G (p.Arg619=)	ZHX3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2557068	NM_001384317.1(ZHX3):c.1849A>G (p.Lys617Glu)	ZHX3 (K617E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2521996	NM_001384317.1(ZHX3):c.1816C>T (p.His606Tyr)	ZHX3 (H606Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2421811	NM_001384317.1(ZHX3):c.1809A>G (p.Gln603=)	ZHX3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1952594	NM_001384317.1(ZHX3):c.1791C>T (p.His597=)	ZHX3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1503836	NM_001384317.1(ZHX3):c.1778C>T (p.Thr593Ile)	ZHX3 (T593I)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2207844	NM_001384317.1(ZHX3):c.1766C>T (p.Pro589Leu)	ZHX3 (P589L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1428301	NM_001384317.1(ZHX3):c.1678C>A (p.Pro560Thr)	ZHX3 (P560T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2334963	NM_001384317.1(ZHX3):c.1658A>T (p.Lys553Met)	ZHX3 (K553M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1536010	NM_001384317.1(ZHX3):c.1599C>T (p.Leu533=)	ZHX3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2535433	NM_001384317.1(ZHX3):c.1592C>T (p.Thr531Met)	ZHX3 (T531M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2343173	NM_001384317.1(ZHX3):c.1563G>C (p.Gln521His)	ZHX3 (Q521H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2025238	NM_001384317.1(ZHX3):c.1441A>C (p.Thr481Pro)	ZHX3 (T481P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2983776	NM_001384317.1(ZHX3):c.1424C>T (p.Ala475Val)	ZHX3 (A475V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2202724	NM_001384317.1(ZHX3):c.1421A>G (p.Asn474Ser)	ZHX3 (N474S)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2860879	NM_001384317.1(ZHX3):c.1399A>G (p.Thr467Ala)	ZHX3 (T467A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2464896	NM_001384317.1(ZHX3):c.1348G>A (p.Val450Ile)	ZHX3 (V450I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2343008	NM_001384317.1(ZHX3):c.1343C>T (p.Thr448Ile)	ZHX3 (T448I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1611053	NM_001384317.1(ZHX3):c.1315A>G (p.Thr439Ala)	ZHX3 (T439A)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2873998	NM_001384317.1(ZHX3):c.1305G>T (p.Gly435=)	ZHX3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2067061	NM_001384317.1(ZHX3):c.1247G>T (p.Gly416Val)	ZHX3 (G416V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2594727	NM_001384317.1(ZHX3):c.1240G>A (p.Val414Ile)	ZHX3 (V414I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1598092	NM_001384317.1(ZHX3):c.1239C>T (p.His413=)	ZHX3	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1505381	NM_001384317.1(ZHX3):c.1229T>C (p.Leu410Pro)	ZHX3 (L410P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2040695	NM_001384317.1(ZHX3):c.1215C>T (p.Leu405=)	ZHX3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2696126	NM_001384317.1(ZHX3):c.1189G>A (p.Ala397Thr)	ZHX3 (A397T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1551028	NM_001384317.1(ZHX3):c.1186G>A (p.Val396Ile)	ZHX3 (V396I)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2973029	NM_001384317.1(ZHX3):c.1185C>T (p.Leu395=)	ZHX3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1483808	NM_001384317.1(ZHX3):c.1167G>A (p.Thr389=)	ZHX3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2598660	NM_001384317.1(ZHX3):c.1130A>G (p.Asn377Ser)	ZHX3 (N377S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2233146	NM_001384317.1(ZHX3):c.1115G>A (p.Arg372Gln)	ZHX3 (R372Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1942446	NM_001384317.1(ZHX3):c.1101G>A (p.Glu367=)	ZHX3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1530976	NM_001384317.1(ZHX3):c.1062C>G (p.Ala354=)	ZHX3	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2073108	NM_001384317.1(ZHX3):c.990C>T (p.Thr330=)	ZHX3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2250783	NM_001384317.1(ZHX3):c.948C>G (p.Asn316Lys)	ZHX3 (N316K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1522507	NM_001384317.1(ZHX3):c.932C>T (p.Ala311Val)	ZHX3 (A311V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1234898	NM_001384317.1(ZHX3):c.929A>G (p.Asn310Ser)	ZHX3 (N310S)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1629926	NM_001384317.1(ZHX3):c.924G>A (p.Thr308=)	ZHX3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3004508	NM_001384317.1(ZHX3):c.907C>T (p.Leu303=)	ZHX3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2299922	NM_001384317.1(ZHX3):c.889C>G (p.Pro297Ala)	ZHX3 (P297A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2222845	NM_001384317.1(ZHX3):c.886C>T (p.Leu296Phe)	ZHX3 (L296F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2530915	NM_001384317.1(ZHX3):c.884C>T (p.Ala295Val)	ZHX3 (A295V)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2469545	NM_001384317.1(ZHX3):c.838G>A (p.Val280Met)	ZHX3 (V280M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2913669	NM_001384317.1(ZHX3):c.811T>C (p.Phe271Leu)	ZHX3 (F271L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1430040	NM_001384317.1(ZHX3):c.787G>A (p.Val263Ile)	ZHX3 (V263I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1987354	NM_001384317.1(ZHX3):c.767C>T (p.Pro256Leu)	ZHX3 (P256L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2071489	NM_001384317.1(ZHX3):c.757G>A (p.Ala253Thr)	ZHX3 (A253T)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1670020	NM_001384317.1(ZHX3):c.756C>T (p.Ala252=)	ZHX3	Single nucleotide variant (synonymous variant)	ZHX3-related condition +1 more	GBenign
Select item 2272846	NM_001384317.1(ZHX3):c.710T>C (p.Val237Ala)	ZHX3 (V237A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2839960	NM_001384317.1(ZHX3):c.660T>A (p.Thr220=)	ZHX3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign

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