ARHGAP17[gene] - ClinVar

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Items: 80

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 144327	GRCh38/hg38 16p13.3-11.2(chr16:4644892-29170820)x3	ABAT, ABCC1 +852 more	Copy number gain	See cases	GPathogenic
Select item 58085	GRCh38/hg38 16p13.11-12.1(chr16:14954894-28306843)x3	LOC125146428, LOC125146429 +400 more	Copy number gain	See cases	GPathogenic
Select item 151527	GRCh38/hg38 16p12.2-11.2(chr16:21350622-29202837)x3	APOBR, AQP8 +287 more	Copy number gain	See cases	GLikely pathogenic
Select item 58086	GRCh38/hg38 16p12.2-11.2(chr16:21463739-29249579)x3	LOC130058727, LOC130058728 +287 more	Copy number gain	See cases	GPathogenic
Select item 58734	GRCh38/hg38 16p12.2-12.1(chr16:21600992-28323344)x1	AQP8, ARHGAP17 +209 more	Copy number loss	See cases	GPathogenic
Select item 58099	GRCh38/hg38 16p12.2-11.2(chr16:21602183-29314373)x3	OTOA, PALB2 +280 more	Copy number gain	See cases	GPathogenic
Select item 146289	GRCh38/hg38 16p12.2-11.2(chr16:22634385-29227323)x3	APOBR, AQP8 +233 more	Copy number gain	See cases	GLikely pathogenic
Select item 58626	GRCh38/hg38 16p12.2-11.2(chr16:23047969-30632245)x3	DCTPP1, DOC2A +409 more	Copy number gain	See cases	GPathogenic
Select item 152605	GRCh38/hg38 16p12.2-11.2(chr16:23752047-31943755)x3	LOC130058732, LOC130058733 +504 more	Copy number gain	See cases	GPathogenic
Select item 3128532	NM_001006634.3(ARHGAP17):c.2639C>T (p.Ala880Val)	ARHGAP17 (A802V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3128531	NM_001006634.3(ARHGAP17):c.2600G>A (p.Arg867His)	ARHGAP17 (R789H +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2213055	NM_001006634.3(ARHGAP17):c.2593C>T (p.Pro865Ser)	ARHGAP17 (P787S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2523133	NM_001006634.3(ARHGAP17):c.2546G>A (p.Arg849His)	ARHGAP17 (R771H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2323525	NM_001006634.3(ARHGAP17):c.2390C>A (p.Pro797Gln)	ARHGAP17 (P797Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2391998	NM_001006634.3(ARHGAP17):c.2384C>T (p.Pro795Leu)	ARHGAP17 (P795L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3128529	NM_001006634.3(ARHGAP17):c.2291C>T (p.Pro764Leu)	ARHGAP17 (P686L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2552593	NM_001006634.3(ARHGAP17):c.2275A>G (p.Thr759Ala)	ARHGAP17 (T759A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2251238	NM_001006634.3(ARHGAP17):c.2263C>T (p.Pro755Ser)	ARHGAP17 (P677S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2513749	NM_001006634.3(ARHGAP17):c.2256C>G (p.His752Gln)	ARHGAP17 (H674Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2212649	NM_001006634.3(ARHGAP17):c.2143C>T (p.Pro715Ser)	ARHGAP17 (P637S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2621556	NM_001006634.3(ARHGAP17):c.2096G>A (p.Arg699Gln)	ARHGAP17 (R699Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2314948	NM_001006634.3(ARHGAP17):c.2036C>T (p.Thr679Ile)	ARHGAP17 (T601I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3310946	NM_001006634.3(ARHGAP17):c.1913C>T (p.Pro638Leu)	ARHGAP17 (P638L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2600834	NM_001006634.3(ARHGAP17):c.1907C>A (p.Pro636His)	ARHGAP17 (P636H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2394615	NM_001006634.3(ARHGAP17):c.1897G>A (p.Val633Ile)	ARHGAP17 (V555I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2461069	NM_001006634.3(ARHGAP17):c.1889G>A (p.Arg630His)	ARHGAP17 (R630H +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2269541	NM_001006634.3(ARHGAP17):c.1883C>T (p.Thr628Ile)	ARHGAP17 (T550I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2485687	NM_001006634.3(ARHGAP17):c.1815G>C (p.Gln605His)	ARHGAP17 (Q527H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2458003	NM_001006634.3(ARHGAP17):c.1781A>G (p.Asn594Ser)	ARHGAP17 (N594S +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3128528	NM_001006634.3(ARHGAP17):c.1736C>T (p.Pro579Leu)	ARHGAP17 (P579L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3310936	NM_001006634.3(ARHGAP17):c.1700A>G (p.Gln567Arg)	ARHGAP17 (Q567R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3128527	NM_001006634.3(ARHGAP17):c.1699C>G (p.Gln567Glu)	ARHGAP17 (Q567E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2614420	NM_001006634.3(ARHGAP17):c.1654A>G (p.Ser552Gly)	ARHGAP17 (S552G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2479047	NM_001006634.3(ARHGAP17):c.1642A>G (p.Arg548Gly)	ARHGAP17 (R548G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2369216	NM_001006634.3(ARHGAP17):c.1640C>G (p.Ser547Cys)	ARHGAP17 (S547C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2345618	NM_001006634.3(ARHGAP17):c.1637G>A (p.Ser546Asn)	ARHGAP17 (S546N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2242745	NM_001006634.3(ARHGAP17):c.1633C>G (p.Gln545Glu)	ARHGAP17 (Q545E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2618532	NM_001006634.3(ARHGAP17):c.1628C>G (p.Pro543Arg)	ARHGAP17 (P543R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2359434	NM_001006634.3(ARHGAP17):c.1612G>A (p.Ala538Thr)	ARHGAP17 (A538T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3128526	NM_001006634.3(ARHGAP17):c.1609C>T (p.Pro537Ser)	ARHGAP17 (P537S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2352695	NM_001006634.3(ARHGAP17):c.1606G>A (p.Val536Met)	ARHGAP17 (V536M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2250267	NM_001006634.3(ARHGAP17):c.1583C>T (p.Pro528Leu)	ARHGAP17 (P528L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3128525	NM_001006634.3(ARHGAP17):c.1574C>T (p.Pro525Leu)	ARHGAP17 (P525L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3128523	NM_001006634.3(ARHGAP17):c.1453A>G (p.Met485Val)	ARHGAP17 (M485V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2595868	NM_001006634.3(ARHGAP17):c.1441C>T (p.Arg481Trp)	ARHGAP17 (R481W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2494241	NM_001006634.3(ARHGAP17):c.1420T>C (p.Ser474Pro)	ARHGAP17 (S474P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2524930	NM_001006634.3(ARHGAP17):c.1408A>C (p.Asn470His)	ARHGAP17 (N470H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2366186	NM_001006634.3(ARHGAP17):c.1406G>C (p.Gly469Ala)	ARHGAP17 (G469A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2246471	NM_001006634.3(ARHGAP17):c.1240G>A (p.Gly414Arg)	ARHGAP17 (G414R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2245663	NM_001006634.3(ARHGAP17):c.1221G>C (p.Leu407Phe)	ARHGAP17 (L407F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3128522	NM_001006634.3(ARHGAP17):c.1199C>T (p.Ala400Val)	ARHGAP17 (A400V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3128521	NM_001006634.3(ARHGAP17):c.1190G>A (p.Ser397Asn)	ARHGAP17 (S397N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2290086	NM_001006634.3(ARHGAP17):c.1135A>T (p.Ile379Phe)	ARHGAP17 (I379F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3128535	NM_001006634.3(ARHGAP17):c.919A>G (p.Thr307Ala)	ARHGAP17 (T307A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2373924	NM_001006634.3(ARHGAP17):c.713G>A (p.Arg238Gln)	ARHGAP17 (R238Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3128534	NM_001006634.3(ARHGAP17):c.554A>G (p.Asn185Ser)	ARHGAP17 (N185S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3128533	NM_001006634.3(ARHGAP17):c.424G>A (p.Ala142Thr)	ARHGAP17 (A142T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2573121	GRCh37/hg19 16p12.2-11.2(chr16:21475039-29043958)x1	NPIPB5, PALB2 +64 more	Copy number loss	Chromosome 16p12.2-p11.2 deletion syndrome	GPathogenic
Select item 1808696	GRCh37/hg19 16p12.2-11.2(chr16:21576803-30177240)x3	ALDOA, APOBR +93 more	Copy number gain	not provided	GPathogenic
Select item 1807793	GRCh37/hg19 16p13.3-11.2(chr16:4380767-30445350)x3	ABAT, ABCC1 +226 more	Copy number gain	not provided	GPathogenic
Select item 1328113	GRCh37/hg19 16p12.2-11.2(chr16:21594997-29625302)x1	APOBR, AQP8 +67 more	Copy number loss	not provided	GPathogenic
Select item 983281	GRCh37/hg19 16p13.3-11.2(chr16:2959279-30190593)x3	ABAT, ABCC1 +252 more	Copy number gain	See cases	GPathogenic
Select item 972938	GRCh37/hg19 16p12.2-11.2(chr16:21312200-29646379)x3	KDM8, LAT +69 more	Copy number gain	not provided	Gnot provided
Select item 830213	NC_000016.9:g.21530207_29332245del	KDM8, LAT +64 more	Deletion	not provided	GPathogenic
Select item 815811	GRCh37/hg19 16p12.2-11.2(chr16:21576802-29351826)x3	GGA2, GSG1L +64 more	Copy number gain	not provided	GPathogenic
Select item 813717	GRCh37/hg19 16p13.3-11.2(chr16:5805001-34230001)	ABAT, ABCC1 +250 more	Copy number gain	Microcephaly	GPathogenic
Select item 564297	GRCh37/hg19 16p12.2-11.2(chr16:21379628-29379768)x1	APOBR, AQP8 +65 more	Copy number loss	not provided	GPathogenic
Select item 443422	GRCh37/hg19 16p12.3-11.2(chr16:18238275-30177240)x3	ACSM1, ACSM2A +128 more	Copy number gain	See cases	GPathogenic
Select item 443382	GRCh37/hg19 16p12.2-11.2(chr16:21379628-29351826)x3	APOBR, AQP8 +65 more	Copy number gain	See cases	GPathogenic
Select item 443126	GRCh37/hg19 16p13.2-q24.3(chr16:9273328-89548493)x3	CBLN1, CCDC102A +591 more	Copy number gain	See cases	GUncertain significance
Select item 443121	GRCh37/hg19 16p13.3-q24.3(chr16:85881-90155062)x3	AARS1, ABAT +811 more	Copy number gain	See cases	GPathogenic
Select item 443120	GRCh37/hg19 16p13.3-q24.3(chr16:85881-90155062)	CCL22, CCNF +811 more	Copy number gain	See cases	GPathogenic
Select item 443086	GRCh37/hg19 16p12.2-11.2(chr16:22718350-28858721)x4	APOBR, AQP8 +44 more	Copy number gain	See cases	GPathogenic
Select item 442244	GRCh37/hg19 16p12.2-11.2(chr16:21596299-30399167)x1	ALDOA, APOBR +102 more	Copy number loss	See cases	GPathogenic
Select item 395601	GRCh37/hg19 16p12.3-11.2(chr16:19424115-30142220)x3	ACSM1, ACSM2A +119 more	Copy number gain	See cases	GPathogenic
Select item 395502	GRCh37/hg19 16p13.3-q24.3(chr16:69193-90274381)x3	ABCC6, BCL7C +811 more	Copy number gain	See cases	GPathogenic
Select item 375693	maternal UPD(16p)	ALG1, BICDL2 +388 more	Complex	Hemimegalencephaly	GPathogenic
Select item 221513	GRCh37/hg19 16p12.3-11.2(chr16:19590412-29814175)x3	ACSM1, ACSM2A +95 more	Copy number gain	Breast ductal adenocarcinoma	GUncertain significance
Select item 221391	GRCh37/hg19 16p13.3-11.2(chr16:1279324-31926800)x3	ABAT, ABCA3 +384 more	Copy number gain	Breast ductal adenocarcinoma	GUncertain significance
Select item 219021	GRCh37/hg19 16p13.3-11.2(chr16:102839-28327676)x3	ABAT, ABCA3 +330 more	Copy number gain	See cases	GPathogenic

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Items: 80