TSHZ2[gene] - ClinVar

Search results

Items: 90

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 146596	GRCh38/hg38 20p13-q13.33(chr20:99557-64277321)x3	JPH2, KAT14 +2522 more	Copy number gain	See cases	GPathogenic
Select item 59218	GRCh38/hg38 20q13.12-13.33(chr20:44787704-64277321)x3	ABHD16B, ACOT8 +1024 more	Copy number gain	See cases	GPathogenic
Select item 59219	GRCh38/hg38 20q13.13-13.2(chr20:49947237-55875406)x3	ADNP, ADNP-AS1 +199 more	Copy number gain	See cases	GPathogenic
Select item 3235944	GRCh38/hg38 20q13.13-13.33(chr20:50805746-64334135)	ABHD16B, ADNP +635 more	Copy number gain	20q13.13qter duplication	GPathogenic
Select item 155517	GRCh38/hg38 20q13.2-13.33(chr20:53236165-64284202)x3	LOC130066385, LOC130066386 +553 more	Copy number gain	See cases	GLikely pathogenic
Select item 2344452	NM_173485.6(TSHZ2):c.109G>A (p.Gly37Ser)	TSHZ2 (G37S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3183692	NM_173485.6(TSHZ2):c.151G>C (p.Asp51His)	TSHZ2 (D48H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3183691	NM_173485.6(TSHZ2):c.151G>A (p.Asp51Asn)	TSHZ2 (D48N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2394655	NM_173485.6(TSHZ2):c.158A>C (p.Glu53Ala)	TSHZ2 (E53A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2347223	NM_173485.6(TSHZ2):c.172C>T (p.Pro58Ser)	TSHZ2 (P55S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2514099	NM_173485.6(TSHZ2):c.176A>G (p.Glu59Gly)	TSHZ2 (E59G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3183696	NM_173485.6(TSHZ2):c.201G>C (p.Gln67His)	TSHZ2 (Q67H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 221919	NM_173485.6(TSHZ2):c.247T>G (p.Ser83Ala)	TSHZ2 (S83A +1 more)	Single nucleotide variant (missense variant)	Anophthalmia-microphthalmia syndrome	GLikely benign
Select item 2309291	NM_173485.6(TSHZ2):c.282C>G (p.Asp94Glu)	TSHZ2 (D94E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2465801	NM_173485.6(TSHZ2):c.298G>A (p.Gly100Ser)	TSHZ2 (G97S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2273598	NM_173485.6(TSHZ2):c.304G>C (p.Asp102His)	TSHZ2 (D102H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2248620	NM_173485.6(TSHZ2):c.305A>G (p.Asp102Gly)	TSHZ2 (D102G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3183706	NM_173485.6(TSHZ2):c.359A>G (p.Asn120Ser)	TSHZ2 (N120S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3183707	NM_173485.6(TSHZ2):c.382G>C (p.Val128Leu)	TSHZ2 (V125L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2477092	NM_173485.6(TSHZ2):c.511G>C (p.Asp171His)	TSHZ2 (D171H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2606459	NM_173485.6(TSHZ2):c.537G>C (p.Gln179His)	TSHZ2 (Q179H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3183708	NM_173485.6(TSHZ2):c.551G>A (p.Arg184Gln)	TSHZ2 (R184Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2464808	NM_173485.6(TSHZ2):c.568A>G (p.Ser190Gly)	TSHZ2 (S187G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2526794	NM_173485.6(TSHZ2):c.662G>C (p.Ser221Thr)	TSHZ2 (S218T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2255311	NM_173485.6(TSHZ2):c.665C>T (p.Ala222Val)	TSHZ2 (A219V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2559527	NM_173485.6(TSHZ2):c.719A>G (p.Tyr240Cys)	TSHZ2 (Y240C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3183709	NM_173485.6(TSHZ2):c.734G>A (p.Arg245His)	TSHZ2 (R245H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2221593	NM_173485.6(TSHZ2):c.758C>T (p.Thr253Met)	TSHZ2 (T253M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2235466	NM_173485.6(TSHZ2):c.844G>A (p.Asp282Asn)	TSHZ2 (D279N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2519949	NM_173485.6(TSHZ2):c.848C>T (p.Ser283Phe)	TSHZ2 (S280F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2533663	NM_173485.6(TSHZ2):c.970G>A (p.Val324Ile)	TSHZ2 (V321I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2550184	NM_173485.6(TSHZ2):c.1013G>T (p.Gly338Val)	TSHZ2 (G335V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3183688	NM_173485.6(TSHZ2):c.1048G>A (p.Ala350Thr)	TSHZ2 (A347T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2551719	NM_173485.6(TSHZ2):c.1075C>T (p.Arg359Cys)	TSHZ2 (R356C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2542531	NM_173485.6(TSHZ2):c.1190C>T (p.Thr397Ile)	TSHZ2 (T397I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2273597	NM_173485.6(TSHZ2):c.1193A>C (p.His398Pro)	TSHZ2 (H395P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2607403	NM_173485.6(TSHZ2):c.1219A>C (p.Lys407Gln)	TSHZ2 (K404Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2479693	NM_173485.6(TSHZ2):c.1258G>C (p.Val420Leu)	TSHZ2 (V417L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 221957	NM_173485.6(TSHZ2):c.1289A>T (p.Gln430Leu)	TSHZ2 (Q430L +1 more)	Single nucleotide variant (missense variant)	Anophthalmia-microphthalmia syndrome	GLikely benign
Select item 3183689	NM_173485.6(TSHZ2):c.1444G>A (p.Glu482Lys)	TSHZ2 (E482K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2208123	NM_173485.6(TSHZ2):c.1451A>G (p.Tyr484Cys)	TSHZ2 (Y481C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2390996	NM_173485.6(TSHZ2):c.1468A>C (p.Lys490Gln)	TSHZ2 (K487Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2354071	NM_173485.6(TSHZ2):c.1639G>T (p.Ala547Ser)	TSHZ2 (A544S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2301812	NM_173485.6(TSHZ2):c.1667C>T (p.Pro556Leu)	TSHZ2 (P556L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3183693	NM_173485.6(TSHZ2):c.1681G>A (p.Gly561Arg)	TSHZ2 (G558R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3183694	NM_173485.6(TSHZ2):c.1702C>T (p.Arg568Trp)	TSHZ2 (R568W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2467256	NM_173485.6(TSHZ2):c.1703G>A (p.Arg568Gln)	TSHZ2 (R565Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2489072	NM_173485.6(TSHZ2):c.1715C>T (p.Thr572Ile)	TSHZ2 (T572I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2652416	NM_173485.6(TSHZ2):c.1776A>G (p.Thr592=)	TSHZ2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2619153	NM_173485.6(TSHZ2):c.1777C>T (p.His593Tyr)	TSHZ2 (H590Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2360797	NM_173485.6(TSHZ2):c.1784C>T (p.Ala595Val)	TSHZ2 (A592V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2214409	NM_173485.6(TSHZ2):c.1804A>G (p.Lys602Glu)	TSHZ2 (K599E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2346714	NM_173485.6(TSHZ2):c.1861G>A (p.Glu621Lys)	TSHZ2 (E618K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3183695	NM_173485.6(TSHZ2):c.1970T>A (p.Leu657Gln)	TSHZ2 (L657Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3183697	NM_173485.6(TSHZ2):c.2054A>G (p.His685Arg)	TSHZ2 (H682R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2517309	NM_173485.6(TSHZ2):c.2060C>T (p.Pro687Leu)	TSHZ2 (P684L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2280689	NM_173485.6(TSHZ2):c.2099C>T (p.Ser700Phe)	TSHZ2 (S700F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2490910	NM_173485.6(TSHZ2):c.2101G>A (p.Val701Ile)	TSHZ2 (V701I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2277543	NM_173485.6(TSHZ2):c.2138T>C (p.Leu713Ser)	TSHZ2 (L710S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2273986	NM_173485.6(TSHZ2):c.2172C>G (p.Ser724Arg)	TSHZ2 (S724R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3183698	NM_173485.6(TSHZ2):c.2195C>T (p.Ser732Leu)	TSHZ2 (S732L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2262586	NM_173485.6(TSHZ2):c.2210T>G (p.Met737Arg)	TSHZ2 (M734R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2228792	NM_173485.6(TSHZ2):c.2254G>A (p.Val752Met)	TSHZ2 (V749M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3183699	NM_173485.6(TSHZ2):c.2263C>T (p.Arg755Cys)	TSHZ2 (R752C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2369303	NM_173485.6(TSHZ2):c.2333C>T (p.Ser778Leu)	TSHZ2 (S778L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2597105	NM_173485.6(TSHZ2):c.2348G>A (p.Cys783Tyr)	TSHZ2 (C780Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3183701	NM_173485.6(TSHZ2):c.2363A>G (p.Gln788Arg)	TSHZ2 (Q788R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2522208	NM_173485.6(TSHZ2):c.2401G>A (p.Val801Ile)	TSHZ2 (V801I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3183702	NM_173485.6(TSHZ2):c.2416A>G (p.Thr806Ala)	TSHZ2 (T806A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2494790	NM_173485.6(TSHZ2):c.2417C>G (p.Thr806Ser)	TSHZ2 (T803S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3329599	NM_173485.6(TSHZ2):c.2453C>G (p.Pro818Arg)	TSHZ2 (P818R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2529066	NM_173485.6(TSHZ2):c.2453C>T (p.Pro818Leu)	TSHZ2 (P815L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2622674	NM_173485.6(TSHZ2):c.2460G>T (p.Lys820Asn)	TSHZ2 (K817N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3183703	NM_173485.6(TSHZ2):c.2585C>T (p.Ser862Leu)	TSHZ2 (S859L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2526638	NM_173485.6(TSHZ2):c.2785A>G (p.Ser929Gly)	TSHZ2 (S929G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3329598	NM_173485.6(TSHZ2):c.2879C>T (p.Ser960Leu)	TSHZ2 (S960L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3183704	NM_173485.6(TSHZ2):c.2915C>G (p.Ser972Cys)	TSHZ2 (S972C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2238951	NM_173485.6(TSHZ2):c.2942C>G (p.Pro981Arg)	TSHZ2 (P978R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2487021	NM_173485.6(TSHZ2):c.3001C>T (p.Arg1001Trp)	TSHZ2 (R1001W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3329597	NM_173485.6(TSHZ2):c.3002G>A (p.Arg1001Gln)	TSHZ2 (R1001Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3183705	NM_173485.6(TSHZ2):c.3047C>T (p.Thr1016Met)	TSHZ2 (T1013M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 549649	NM_006526.2(ZNF217):c.561_22199dup	LOC101927770, TSHZ2 +1 more	Duplication	Primary amenorrhea	GUncertain significance
Select item 2685647	GRCh37/hg19 20q13.2(chr20:51192560-53918272)x1	BCAS1, CYP24A1 +4 more	Copy number loss	not provided	GUncertain significance
Select item 1340656	GRCh37/hg19 20q13.2(chr20:51646482-51891748)x3	TSHZ2	Copy number gain	not provided	GUncertain significance
Select item 1180535	GRCh37/hg19 20q13.2-13.33(chr20:51799648-62916626)x3	GATA5, ZBTB46 +116 more	Copy number gain	not provided	GPathogenic
Select item 443773	GRCh37/hg19 20q13.13-13.2(chr20:47627844-52045480)x1	ADNP, ARFGEF2 +28 more	Copy number loss	See cases	GPathogenic
Select item 443340	GRCh37/hg19 20p13-q13.33(chr20:61569-62915555)x3	AAR2, ABHD12 +540 more	Copy number gain	See cases	GPathogenic
Select item 443339	GRCh37/hg19 20p13-q13.33(chr20:61569-62915555)	AAR2, ABHD12 +540 more	Copy number gain	See cases	GPathogenic
Select item 441724	GRCh37/hg19 20q13.2-13.33(chr20:51542616-62915555)x3	ABHD16B, ADRM1 +116 more	Copy number gain	See cases	GLikely pathogenic
Select item 441649	GRCh37/hg19 20q13.2(chr20:50327635-52375128)x3	ATP9A, SALL4 +3 more	Copy number gain	See cases	GUncertain significance

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Items: 90