HTATIP2[gene] - ClinVar

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Items: 32

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 145597	GRCh38/hg38 11p15.1(chr11:18526222-20748125)x3	CSRP3, CSRP3-AS1 +83 more	Copy number gain	See cases	GUncertain significance
Select item 154432	GRCh38/hg38 11p15.1-13(chr11:20079474-34463996)x1	ABTB2, ANO3 +283 more	Copy number loss	See cases	GPathogenic
Select item 2597340	NM_001098522.2(HTATIP2):c.-392C>T	HTATIP2 (A12V)	Single nucleotide variant (missense variant +2 more)	not specified	GLikely benign
Select item 3107460	NM_001098522.2(HTATIP2):c.16G>A (p.Ala6Thr)	HTATIP2 (A40T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3107461	NM_001098522.2(HTATIP2):c.55A>G (p.Lys19Glu)	HTATIP2 (K53E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3107463	NM_001098522.2(HTATIP2):c.71T>G (p.Leu24Trp)	HTATIP2 (L58W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3285013	NM_001098522.2(HTATIP2):c.91G>C (p.Gly31Arg)	HTATIP2 (G31R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3107464	NM_001098522.2(HTATIP2):c.148A>G (p.Ile50Val)	HTATIP2 (I50V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3107465	NM_001098522.2(HTATIP2):c.149T>C (p.Ile50Thr)	HTATIP2 (I84T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2343561	NM_001098522.2(HTATIP2):c.155G>A (p.Arg52Gln)	HTATIP2 (R52Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3285012	NM_001098522.2(HTATIP2):c.159G>C (p.Arg53Ser)	HTATIP2 (R53S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2523036	NM_001098522.2(HTATIP2):c.185A>C (p.Tyr62Ser)	HTATIP2 (Y62S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3285015	NM_001098522.2(HTATIP2):c.253C>T (p.His85Tyr)	HTATIP2 (H85Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 154490	GRCh38/hg38 11p15.1(chr11:20375594-20634327)x1	HTATIP2, LOC124421507 +8 more	Copy number loss	See cases	GUncertain significance
Select item 3285011	NM_001098522.2(HTATIP2):c.383A>G (p.Asn128Ser)	HTATIP2 (N162S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2542254	NM_001098522.2(HTATIP2):c.448G>A (p.Val150Ile)	HTATIP2 (V150I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2335158	NM_001098522.2(HTATIP2):c.454G>A (p.Ala152Thr)	HTATIP2 (A186T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2317491	NM_001098522.2(HTATIP2):c.499C>T (p.Pro167Ser)	HTATIP2 (P167S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3285014	NM_001098522.2(HTATIP2):c.513A>T (p.Leu171Phe)	HTATIP2 (L205F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3107466	NM_001098522.2(HTATIP2):c.637A>C (p.Asn213His)	HTATIP2 (N213H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1808953	GRCh37/hg19 11p15.1(chr11:20191503-20412738)x1	HTATIP2, PRMT3	Copy number loss	not provided	GUncertain significance
Select item 1707435	GRCh37/hg19 11p15.5-14.2(chr11:230615-26881146)x3	CYP2R1, DBX1 +308 more	Copy number gain	See cases	GPathogenic
Select item 997825	Single allele	MMP13, MMP20 +904 more	Deletion	Intellectual disability	GPathogenic
Select item 815411	GRCh37/hg19 11p15.2-14.1(chr11:13970757-27565888)x3	LDHA, SLC5A12 +67 more	Copy number gain	not provided	GPathogenic
Select item 815410	GRCh37/hg19 11p15.3-13(chr11:11053978-34732891)x3	DKK3, DNAJC24 +116 more	Copy number gain	not provided	GPathogenic
Select item 815395	GRCh37/hg19 11p15.5-13(chr11:235934-33826995)x3	CALCB, CARS1 +343 more	Copy number gain	not provided	GPathogenic
Select item 441985	GRCh37/hg19 11p15.5-13(chr11:230615-31995219)x3	DEAF1, DENND2B +327 more	Copy number gain	See cases	GPathogenic
Select item 441904	GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)	AAMDC, AASDHPPT +1289 more	Copy number gain	See cases	GPathogenic
Select item 441903	GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)x3	SLC37A4, SNORD26 +1289 more	Copy number gain	See cases	GPathogenic
Select item 441787	GRCh37/hg19 11p15.5-14.3(chr11:230615-25584362)x3	ASCL3, CEND1 +305 more	Copy number gain	See cases	GPathogenic
Select item 441715	GRCh37/hg19 11p15.5-12(chr11:230615-37698540)x3	ART5, CCDC34 +364 more	Copy number gain	See cases	GPathogenic
Select item 376757	GRCh37/hg19 11p15.1-13(chr11:18536224-31923308)x1	DCDC1, DNAJC24 +44 more	Copy number loss	Aniridia 1	GPathogenic

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Items: 32