ARHGAP44[gene] - ClinVar

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Items: 61

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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
Select item 1707454	Single allele	ADORA2B, ARHGAP44 +228 more	Duplication	not specified	GPathogenic
Select item 3235931	GRCh38/hg38 17p12(chr17:12453983-12791857)	ARHGAP44, ARHGAP44-AS1 +7 more	Copy number loss	Megabladder, congenital	GLikely pathogenic
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 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 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 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 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 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 3312380	NM_014859.6(ARHGAP44):c.1227C>G (p.Asn409Lys)	ARHGAP44 (N409K +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	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 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 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 3312382	NM_014859.6(ARHGAP44):c.1353C>G (p.Phe451Leu)	ARHGAP44 (F251L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3312388	NM_014859.6(ARHGAP44):c.1414A>G (p.Met472Val)	ARHGAP44 (M472V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
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 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 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 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 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 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 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 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 736658	NM_014859.6(ARHGAP44):c.1644G>A (p.Pro548=)	ARHGAP44	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 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 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 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 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 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 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 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 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 2603139	NM_014859.6(ARHGAP44):c.2010C>T (p.Ser670=)	ARHGAP44	Single nucleotide variant (synonymous variant +1 more)	not specified	GLikely benign
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 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 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 3312379	NM_014859.6(ARHGAP44):c.2105C>G (p.Ser702Trp)	ARHGAP44 (S696W +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
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 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 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 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 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 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 3312391	NM_014859.6(ARHGAP44):c.2344A>G (p.Ile782Val)	ARHGAP44 (I776V +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 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 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 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 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 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 3063486	GRCh37/hg19 17p13.3-11.2(chr17:525-21510992)x3	ABR, ACADVL +329 more	Copy number gain	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 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	ALOX12, ALOX12B +1143 more	Copy number gain	See cases	GPathogenic
Select item 441815	GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)	SPEM2, TBCD +1143 more	Copy number gain	See cases	GPathogenic
Select item 221346	Single allele	ADORA2B, ADPRM +41 more	Complex	Breast ductal adenocarcinoma	GUncertain significance

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Items: 61