57514[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 154258	GRCh38/hg38 3q11.1-24(chr3:93800620-145695381)x3	PDIA5, PHLDB2 +1344 more	Copy number gain	See cases	GPathogenic
Select item 57803	GRCh38/hg38 3q11.1-21.1(chr3:93886671-123216683)x1	TRAT1, TRMT10C +638 more	Copy number loss	See cases	GPathogenic
Select item 2579175	GRCh38/hg38 3q11.1-21.2(chr3:93979547-124774010)x1	CCDC54-AS1, LOC123002328 +682 more	Copy number loss	Chromosome 3q13.31 deletion syndrome	GPathogenic
Select item 145614	GRCh38/hg38 3q13.11-29(chr3:103426882-198110178)x3	LOC115995524, LOC115995525 +2647 more	Copy number gain	See cases	GPathogenic
Select item 154658	GRCh38/hg38 3q13.2-13.33(chr3:112520553-120031022)x1	ADPRH, ARHGAP31 +191 more	Copy number loss	See cases	GPathogenic
Select item 150138	GRCh38/hg38 3q13.2-21.3(chr3:112620977-128734134)x1	LOC129937460, LOC129937461 +571 more	Copy number loss	See cases	GPathogenic
Select item 153722	GRCh38/hg38 3q13.31-21.2(chr3:114122562-124532374)x1	LOC129937275, LOC129937276 +286 more	Copy number loss	See cases	GPathogenic
Select item 146711	GRCh38/hg38 3q13.31-21.1(chr3:115019074-122513398)x1	LOC129937337, LOC129937338 +199 more	Copy number loss	See cases	GPathogenic
Select item 154810	GRCh38/hg38 3q13.32-13.33(chr3:117844958-120826621)x4	ADPRH, ARHGAP31 +101 more	Copy number gain	See cases	GUncertain significance
Select item 146286	GRCh38/hg38 3q13.32-13.33(chr3:117844958-120797026)x4	ADPRH, ARHGAP31 +100 more	Copy number gain	See cases	GUncertain significance
Select item 155628	GRCh38/hg38 3q13.32-21.3(chr3:118673898-126540730)x1	ADCY5, ADPRH +326 more	Copy number loss	See cases	GPathogenic
Select item 57806	GRCh38/hg38 3q13.32-21.2(chr3:119117166-125920734)x1	LOC129937413, LOC129937414 +291 more	Copy number loss	See cases	GPathogenic
Select item 1287086	NM_020754.4(ARHGAP31):c.-194G>A	ARHGAP31, LOC129937303	Single nucleotide variant (5 prime UTR variant)	not provided	GBenign
Select item 342621	NM_020754.4(ARHGAP31):c.-172CCCGCGG[3]	ARHGAP31, LOC129937303	Microsatellite (5 prime UTR variant)	Adams-Oliver syndrome	GUncertain significance
Select item 1213601	NM_020754.4(ARHGAP31):c.-149G>A	ARHGAP31, LOC129937303	Single nucleotide variant (5 prime UTR variant)	not provided	GLikely benign
Select item 342625	NM_020754.4(ARHGAP31):c.-38C>A	ARHGAP31	Single nucleotide variant (5 prime UTR variant)	Adams-Oliver syndrome 1 +1 more	GBenign
Select item 2636580	NM_020754.4(ARHGAP31):c.-6delinsGA	ARHGAP31	Indel (5 prime UTR variant)	ARHGAP31-related disorder	GUncertain significance
Select item 2315245	NM_020754.4(ARHGAP31):c.19A>G (p.Lys7Glu)	ARHGAP31 (K7E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 452136	NM_020754.4(ARHGAP31):c.29T>C (p.Leu10Pro)	ARHGAP31 (L10P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1911483	NM_020754.4(ARHGAP31):c.53C>T (p.Ala18Val)	ARHGAP31 (A18V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2872026	NM_020754.4(ARHGAP31):c.99T>C (p.Asp33=)	ARHGAP31	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 716907	NM_020754.4(ARHGAP31):c.100+8_100+9del	ARHGAP31	Deletion (intron variant)	not provided	GLikely benign
Select item 342626	NM_020754.4(ARHGAP31):c.100+9C>T	ARHGAP31	Single nucleotide variant (intron variant)	not provided	GBenign/Likely benign
Select item 1649840	NM_020754.4(ARHGAP31):c.100+19del	ARHGAP31	Deletion (intron variant)	not provided	GBenign
Select item 1277783	NM_020754.4(ARHGAP31):c.100+77A>T	ARHGAP31	Single nucleotide variant (intron variant)	Adams-Oliver syndrome 1 +1 more	GBenign
Select item 1290204	NM_020754.4(ARHGAP31):c.100+148del	ARHGAP31	Deletion (intron variant)	not provided	GBenign
Select item 1199423	NM_020754.4(ARHGAP31):c.100+183T>C	ARHGAP31	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1190648	NM_020754.4(ARHGAP31):c.100+284G>C	ARHGAP31	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1255081	NM_020754.4(ARHGAP31):c.101-330C>T	ARHGAP31	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1259498	NM_020754.4(ARHGAP31):c.101-294A>G	ARHGAP31	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1183029	NM_020754.4(ARHGAP31):c.101-49G>A	ARHGAP31	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1250667	NM_020754.4(ARHGAP31):c.101-37C>A	ARHGAP31	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1942688	NM_020754.4(ARHGAP31):c.101-16C>G	ARHGAP31	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3048820	NM_020754.4(ARHGAP31):c.101-9T>C	ARHGAP31	Single nucleotide variant (intron variant)	ARHGAP31-related disorder	GLikely benign
Select item 3002588	NM_020754.4(ARHGAP31):c.101-4A>G	ARHGAP31	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2703278	NM_020754.4(ARHGAP31):c.116A>G (p.Lys39Arg)	ARHGAP31 (K39R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2022216	NM_020754.4(ARHGAP31):c.133A>G (p.Ile45Val)	ARHGAP31 (I45V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1028180	NM_020754.4(ARHGAP31):c.142C>T (p.His48Tyr)	ARHGAP31 (H48Y)	Single nucleotide variant (missense variant)	Adams-Oliver syndrome 1 +1 more	GUncertain significance
Select item 3381449	NM_020754.4(ARHGAP31):c.146del (p.Gly49fs)	ARHGAP31 (G49fs)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 1331264	NM_020754.4(ARHGAP31):c.145G>A (p.Gly49Ser)	ARHGAP31 (G49S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1130471	NM_020754.4(ARHGAP31):c.147C>T (p.Gly49=)	ARHGAP31	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 744148	NM_020754.4(ARHGAP31):c.150C>T (p.Ile50=)	ARHGAP31	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3345122	NM_020754.4(ARHGAP31):c.155A>G (p.Asp52Gly)	ARHGAP31 (D52G)	Single nucleotide variant (missense variant)	ARHGAP31-related disorder	GUncertain significance
Select item 342627	NM_020754.4(ARHGAP31):c.203+6C>T	ARHGAP31	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2203379	NM_020754.4(ARHGAP31):c.203+9A>C	ARHGAP31	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1273175	NM_020754.4(ARHGAP31):c.203+66A>G	ARHGAP31	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1199503	NM_020754.4(ARHGAP31):c.203+69G>A	ARHGAP31	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1202082	NM_020754.4(ARHGAP31):c.203+282C>T	ARHGAP31	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2827298	NM_020754.4(ARHGAP31):c.204-20C>G	ARHGAP31	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2827299	NM_020754.4(ARHGAP31):c.204-19_204-18insTGTTGTTATGTGTTGTCTGGA	ARHGAP31	Insertion (intron variant)	not provided	GLikely benign
Select item 2827300	NM_020754.4(ARHGAP31):c.204-18C>T	ARHGAP31	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1554240	NM_020754.4(ARHGAP31):c.204-17C>T	ARHGAP31	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1903835	NM_020754.4(ARHGAP31):c.204-16G>A	ARHGAP31	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2973168	NM_020754.4(ARHGAP31):c.223C>A (p.Gln75Lys)	ARHGAP31 (Q75K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 727075	NM_020754.4(ARHGAP31):c.225A>G (p.Gln75=)	ARHGAP31	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3311772	NM_020754.4(ARHGAP31):c.248T>G (p.Val83Gly)	ARHGAP31 (V83G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1431221	NM_020754.4(ARHGAP31):c.250T>C (p.Tyr84His)	ARHGAP31 (Y84H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 752225	NM_020754.4(ARHGAP31):c.279G>A (p.Ser93=)	ARHGAP31	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2897333	NM_020754.4(ARHGAP31):c.318C>T (p.Leu106=)	ARHGAP31	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 283576	NM_020754.4(ARHGAP31):c.347C>T (p.Thr116Met)	ARHGAP31 (T116M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1634260	NM_020754.4(ARHGAP31):c.348+19A>G	ARHGAP31	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1278002	NM_020754.4(ARHGAP31):c.349-153A>G	ARHGAP31	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1239842	NM_020754.4(ARHGAP31):c.349-113C>T	ARHGAP31	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 342628	NM_020754.4(ARHGAP31):c.349-9_349-7del	ARHGAP31	Microsatellite (intron variant)	Adams-Oliver syndrome	GUncertain significance
Select item 1616235	NM_020754.4(ARHGAP31):c.349-12T>C	ARHGAP31	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 281905	NM_020754.4(ARHGAP31):c.349-7T>G	ARHGAP31	Single nucleotide variant (intron variant)	Adams-Oliver syndrome 1 +2 more	GBenign/Likely benign
Select item 3065855	NM_020754.4(ARHGAP31):c.349-1G>A	ARHGAP31	Single nucleotide variant (splice acceptor variant)	Adams-Oliver syndrome 1	GUncertain significance
Select item 2072292	NM_020754.4(ARHGAP31):c.359C>T (p.Ser120Leu)	ARHGAP31 (S120L)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1942138	NM_020754.4(ARHGAP31):c.360G>T (p.Ser120=)	ARHGAP31	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2636332	NM_020754.4(ARHGAP31):c.362A>G (p.His121Arg)	ARHGAP31 (H121R)	Single nucleotide variant (missense variant)	ARHGAP31-related disorder	GUncertain significance
Select item 3058386	NM_020754.4(ARHGAP31):c.365G>A (p.Cys122Tyr)	ARHGAP31 (C122Y)	Single nucleotide variant (missense variant)	ARHGAP31-related disorder	GUncertain significance
Select item 1470394	NM_020754.4(ARHGAP31):c.371AAG[1] (p.Glu125del)	ARHGAP31 (E125del)	Microsatellite (inframe_deletion)	Inborn genetic diseases +1 more	GUncertain significance
Select item 342629	NM_020754.4(ARHGAP31):c.384G>C (p.Leu128=)	ARHGAP31	Single nucleotide variant (synonymous variant)	Adams-Oliver syndrome 1 +1 more	GBenign/Likely benign
Select item 3366795	NM_020754.4(ARHGAP31):c.386C>T (p.Ala129Val)	ARHGAP31 (A129V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1437988	NM_020754.4(ARHGAP31):c.389G>A (p.Arg130Gln)	ARHGAP31 (R130Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1915532	NM_020754.4(ARHGAP31):c.396A>G (p.Gln132=)	ARHGAP31	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2232973	NM_020754.4(ARHGAP31):c.410A>C (p.Glu137Ala)	ARHGAP31 (E137A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1194495	NM_020754.4(ARHGAP31):c.431+190G>A	ARHGAP31	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1215199	NM_020754.4(ARHGAP31):c.431+256A>G	ARHGAP31	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1277524	NM_020754.4(ARHGAP31):c.432-287_432-284del	ARHGAP31	Deletion (intron variant)	not provided	GBenign
Select item 1249495	NM_020754.4(ARHGAP31):c.432-284del	ARHGAP31	Deletion (intron variant)	not provided	GBenign
Select item 1202271	NM_020754.4(ARHGAP31):c.432-297A>G	ARHGAP31	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1263695	NM_020754.4(ARHGAP31):c.432-237T>G	ARHGAP31	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1234526	NM_020754.4(ARHGAP31):c.432-100T>A	ARHGAP31	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1548158	NM_020754.4(ARHGAP31):c.432-13C>A	ARHGAP31	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 342630	NM_020754.4(ARHGAP31):c.432-7A>G	ARHGAP31	Single nucleotide variant (intron variant)	Adams-Oliver syndrome 1 +1 more	GBenign/Likely benign
Select item 287280	NM_020754.4(ARHGAP31):c.435C>G (p.Thr145=)	ARHGAP31	Single nucleotide variant (synonymous variant)	not provided	GConflicting classifications of pathogenicity
Select item 499152	NM_020754.4(ARHGAP31):c.452G>A (p.Arg151Gln)	ARHGAP31 (R151Q)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 2504152	NM_020754.4(ARHGAP31):c.461C>T (p.Ala154Val)	ARHGAP31 (A154V)	Single nucleotide variant (missense variant)	See cases	GUncertain significance
Select item 2973535	NM_020754.4(ARHGAP31):c.466A>G (p.Ile156Val)	ARHGAP31 (I156V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2530752	NM_020754.4(ARHGAP31):c.472T>A (p.Ser158Thr)	ARHGAP31 (S158T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2439151	NM_020754.4(ARHGAP31):c.482G>C (p.Ser161Thr)	ARHGAP31 (S161T)	Single nucleotide variant (missense variant)	Adams-Oliver syndrome 1 +1 more	GConflicting classifications of pathogenicity
Select item 283593	NM_020754.4(ARHGAP31):c.499G>A (p.Ala167Thr)	ARHGAP31 (A167T)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2007628	NM_020754.4(ARHGAP31):c.525G>T (p.Ala175=)	ARHGAP31	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3128752	NM_020754.4(ARHGAP31):c.538A>T (p.Arg180Trp)	ARHGAP31 (R180W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 1907721	NM_020754.4(ARHGAP31):c.539+11T>C	ARHGAP31	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2098962	NM_020754.4(ARHGAP31):c.539+18C>A	ARHGAP31	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1190053	NM_020754.4(ARHGAP31):c.540-320T>C	ARHGAP31	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1217393	NM_020754.4(ARHGAP31):c.540-170G>A	ARHGAP31	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1280632	NM_020754.4(ARHGAP31):c.540-44_540-43dup	ARHGAP31	Duplication (intron variant)	not provided	GBenign

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