ClinVar for Gene (Select 9912) - ClinVar

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

Links from Gene

Items: 56

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3235931	GRCh38/hg38 17p12(chr17:12453983-12791857)	ARHGAP44, ARHGAP44-AS1 +7 more	Copy number loss	Megabladder, congenital	GLikely pathogenic
Select item 3128877	NM_014859.6(ARHGAP44):c.2399G>A (p.Arg800Gln)	ARHGAP44 (R794Q +1 more)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 3128876	NM_014859.6(ARHGAP44):c.2375T>C (p.Leu792Pro)	ARHGAP44 (L792P +1 more)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 3128875	NM_014859.6(ARHGAP44):c.2296C>T (p.Pro766Ser)	ARHGAP44 (P560S +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3128874	NM_014859.6(ARHGAP44):c.2246C>T (p.Ser749Leu)	ARHGAP44 (S749L +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3128873	NM_014859.6(ARHGAP44):c.1657G>C (p.Ala553Pro)	ARHGAP44 (A547P +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3128872	NM_014859.6(ARHGAP44):c.1456G>A (p.Glu486Lys)	ARHGAP44 (E486K +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3128871	NM_014859.6(ARHGAP44):c.1280C>T (p.Ser427Leu)	ARHGAP44 (S227L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3063486	GRCh37/hg19 17p13.3-11.2(chr17:525-21510992)x3	ABR, ACADVL +329 more	Copy number gain	not specified	GPathogenic
Select item 3033390	NM_014859.6(ARHGAP44):c.2049G>C (p.Pro683=)	ARHGAP44	Single nucleotide variant (synonymous variant +1 more)	ARHGAP44-related disorder	GLikely benign
Select item 2692460	NM_014859.6(ARHGAP44):c.1780G>A (p.Glu594Lys)	ARHGAP44 (E594K +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2603312	NM_014859.6(ARHGAP44):c.1592C>T (p.Ser531Leu)	ARHGAP44 (S325L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2603139	NM_014859.6(ARHGAP44):c.2010C>T (p.Ser670=)	ARHGAP44	Single nucleotide variant (synonymous variant +1 more)	not specified	GLikely benign
Select item 2603036	NM_014859.6(ARHGAP44):c.2144C>T (p.Ser715Phe)	ARHGAP44 (S509F +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2598740	NM_014859.6(ARHGAP44):c.2048C>T (p.Pro683Leu)	ARHGAP44 (P677L +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2596300	NM_014859.6(ARHGAP44):c.2060C>A (p.Pro687Gln)	ARHGAP44 (P681Q +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2592621	NM_014859.6(ARHGAP44):c.2004C>A (p.Asp668Glu)	ARHGAP44 (D668E +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2565357	NM_014859.6(ARHGAP44):c.1444C>T (p.Arg482Trp)	ARHGAP44 (R282W +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2556133	NM_014859.6(ARHGAP44):c.1663C>T (p.Pro555Ser)	ARHGAP44 (P349S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2544523	NM_014859.6(ARHGAP44):c.2416A>G (p.Lys806Glu)	ARHGAP44 (K806E +1 more)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2544522	NM_014859.6(ARHGAP44):c.2353G>C (p.Glu785Gln)	ARHGAP44 (E779Q +1 more)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2540944	NM_014859.6(ARHGAP44):c.1639G>A (p.Ala547Thr)	ARHGAP44 (A341T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2508812	NM_014859.6(ARHGAP44):c.54G>A (p.Arg18=)	ARHGAP44	Single nucleotide variant (synonymous variant +2 more)	not specified	GLikely benign
Select item 2489258	NM_014859.6(ARHGAP44):c.2323G>A (p.Val775Ile)	ARHGAP44 (V769I +1 more)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2481678	NM_014859.6(ARHGAP44):c.2435A>C (p.Glu812Ala)	ARHGAP44 (E806A +1 more)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2471428	NM_014859.6(ARHGAP44):c.1966C>G (p.Pro656Ala)	ARHGAP44 (P450A +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2458389	NM_014859.6(ARHGAP44):c.1877C>T (p.Pro626Leu)	ARHGAP44 (P620L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2407707	NM_014859.6(ARHGAP44):c.1344G>C (p.Glu448Asp)	ARHGAP44 (E248D +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2382734	NM_014859.6(ARHGAP44):c.1448G>A (p.Arg483His)	ARHGAP44 (R483H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2378542	NM_014859.6(ARHGAP44):c.392A>G (p.Glu131Gly)	ARHGAP44 (E131G)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2371062	NM_014859.6(ARHGAP44):c.556G>A (p.Ala186Thr)	ARHGAP44 (A186T)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2352831	NM_014859.6(ARHGAP44):c.2249C>T (p.Ala750Val)	ARHGAP44 (A744V +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2337281	NM_014859.6(ARHGAP44):c.1690C>T (p.Pro564Ser)	ARHGAP44 (P558S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2329763	NM_014859.6(ARHGAP44):c.2395C>T (p.Arg799Trp)	ARHGAP44 (R793W +1 more)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2320927	NM_014859.6(ARHGAP44):c.1598G>A (p.Gly533Asp)	ARHGAP44 (G527D +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2307301	NM_014859.6(ARHGAP44):c.1531A>G (p.Lys511Glu)	ARHGAP44 (K511E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2306732	NM_014859.6(ARHGAP44):c.1465C>T (p.Arg489Cys)	ARHGAP44 (R289C +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2291666	NM_014859.6(ARHGAP44):c.1096G>A (p.Ala366Thr)	ARHGAP44 (A166T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2291028	NM_014859.6(ARHGAP44):c.1834G>A (p.Ala612Thr)	ARHGAP44 (A406T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2287585	NM_014859.6(ARHGAP44):c.515C>T (p.Ala172Val)	ARHGAP44 (A172V)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2259434	NM_014859.6(ARHGAP44):c.1827G>T (p.Gln609His)	ARHGAP44 (Q403H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2257042	NM_014859.6(ARHGAP44):c.497C>T (p.Ser166Phe)	ARHGAP44 (S166F)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2214216	NM_014859.6(ARHGAP44):c.2342C>T (p.Ser781Leu)	ARHGAP44 (S775L +1 more)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 1707454	Single allele	ADORA2B, ARHGAP44 +228 more	Duplication	not specified	GPathogenic
Select item 1339912	GRCh37/hg19 17p12-11.2(chr17:12524223-16047567)x1	ADORA2B, ARHGAP44 +18 more	Copy number loss	Hereditary liability to pressure palsies	Gnot provided
Select item 929830	GRCh37/hg19 17p13.1-12(chr17:10493837-15099023)x1	ADPRM, ARHGAP44 +14 more	Copy number loss	See cases	GUncertain significance
Select item 790717	NM_014859.6(ARHGAP44):c.1242A>G (p.Gln414=)	ARHGAP44	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 736658	NM_014859.6(ARHGAP44):c.1644G>A (p.Pro548=)	ARHGAP44	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 688146	GRCh37/hg19 17p12(chr17:12789234-12949662)x3	ARHGAP44, ELAC2	Copy number gain	not provided	GUncertain significance
Select item 688007	GRCh37/hg19 17p12(chr17:12788987-12964015)x3	ARHGAP44, ELAC2	Copy number gain	not provided	GUncertain significance
Select item 443659	GRCh37/hg19 17p13.3-12(chr17:525-15027737)x3	ABR, ACADVL +250 more	Copy number gain	See cases	GPathogenic
Select item 441816	GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)x3	EFTUD2, EIF1 +1143 more	Copy number gain	See cases	GPathogenic
Select item 441815	GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)	KRT15, KRT16 +1143 more	Copy number gain	See cases	GPathogenic
Select item 221346	Single allele	ADORA2B, ADPRM +41 more	Complex	Breast ductal adenocarcinoma	GUncertain significance
Select item 154089	GRCh38/hg38 17p13.3-12(chr17:150732-14764202)x3	ABR, ABR-AS1 +962 more	Copy number gain	See cases	GPathogenic
Select item 58693	GRCh38/hg38 17p12-11.2(chr17:10892259-17964282)x3	LOC130060335, LOC130060336 +242 more	Copy number gain	See cases	GPathogenic

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: 56