ClinVar for Gene (Select 10553) - ClinVar

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

Links from Gene

Items: 32

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 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 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 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 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 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 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 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 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 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 2597340	NM_001098522.2(HTATIP2):c.-392C>T	HTATIP2 (A12V)	Single nucleotide variant (missense variant +2 more)	not specified	GLikely benign
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 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 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 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 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
Select item 154490	GRCh38/hg38 11p15.1(chr11:20375594-20634327)x1	HTATIP2, LOC124421507 +8 more	Copy number loss	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 145597	GRCh38/hg38 11p15.1(chr11:18526222-20748125)x3	CSRP3, CSRP3-AS1 +83 more	Copy number gain	See cases	GUncertain significance

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Links from Gene

Items: 32