KIAA1191[gene] - ClinVar

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Items: 69

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58118	GRCh38/hg38 5q32-35.3(chr5:149714592-181272151)x3	ADAM19, ADAMTS2 +1166 more	Copy number gain	See cases	GPathogenic
Select item 144365	GRCh38/hg38 5q33.3-35.3(chr5:156825512-181269805)x3	ADAM19, ADAMTS2 +863 more	Copy number gain	See cases	GPathogenic
Select item 146233	GRCh38/hg38 5q34-35.3(chr5:164386701-181269805)x3	ADAMTS2, ARL10 +676 more	Copy number gain	See cases	GPathogenic
Select item 152731	GRCh38/hg38 5q35.1-35.3(chr5:169334755-181285301)x3	LOC129995246, LOC129995247 +622 more	Copy number gain	See cases	GPathogenic
Select item 154580	GRCh38/hg38 5q35.1-35.2(chr5:173237772-176614618)x3	ARL10, BOD1 +131 more	Copy number gain	See cases	GPathogenic
Select item 153687	GRCh38/hg38 5q35.2-35.3(chr5:175536771-181292788)x1	LOC129995359, LOC129995360 +386 more	Copy number loss	See cases	GPathogenic
Select item 58122	GRCh38/hg38 5q35.2-35.3(chr5:175851047-178365049)x3	FAM153A, FAM153B +176 more	Copy number gain	See cases	GPathogenic
Select item 58123	GRCh38/hg38 5q35.2-35.3(chr5:175889986-180793986)x3	ADAMTS2, ARL10 +292 more	Copy number gain	See cases	GPathogenic
Select item 154297	GRCh38/hg38 5q35.2-35.3(chr5:175989092-178009412)x1	ARL10, B4GALT7 +145 more	Copy number loss	See cases	GPathogenic
Select item 59300	GRCh38/hg38 5q35.2-35.3(chr5:176043476-177995759)x1	ARL10, B4GALT7 +145 more	Copy number loss	See cases	GPathogenic
Select item 59301	GRCh38/hg38 5q35.2-35.3(chr5:176115257-177646633)x1	LOC129995374, LOC129995375 +136 more	Copy number loss	See cases	GPathogenic
Select item 154443	GRCh38/hg38 5q35.2-35.3(chr5:176132340-177995759)x1	ARL10, B4GALT7 +142 more	Copy number loss	See cases	GPathogenic
Select item 57051	GRCh38/hg38 5q35.2-35.3(chr5:176132340-177586960)x1	ARL10, CDHR2 +129 more	Copy number loss	See cases	GPathogenic
Select item 155396	GRCh38/hg38 5q35.2-35.3(chr5:176143674-178009412)x1	ARL10, B4GALT7 +141 more	Copy number loss	See cases	GPathogenic
Select item 59634	GRCh38/hg38 5q35.2-35.3(chr5:176149599-177716401)x3	ARL10, B4GALT7 +137 more	Copy number gain	See cases	GPathogenic
Select item 59303	GRCh38/hg38 5q35.2-35.3(chr5:176152073-177646633)x1	ARL10, B4GALT7 +134 more	Copy number loss	See cases	GPathogenic
Select item 59302	GRCh38/hg38 5q35.2-35.3(chr5:176152073-177986213)x1	ARL10, B4GALT7 +140 more	Copy number loss	See cases	GPathogenic
Select item 153772	GRCh38/hg38 5q35.2-35.3(chr5:176291838-178662699)x1	ARL10, B4GALT7 +172 more	Copy number loss	See cases	GPathogenic
Select item 2456486	NM_020444.5(KIAA1191):c.905C>T (p.Pro302Leu)	KIAA1191 (P302L +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2337994	NM_020444.5(KIAA1191):c.855G>T (p.Gln285His)	KIAA1191 (Q266H +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2361651	NM_020444.5(KIAA1191):c.797A>G (p.Asp266Gly)	KIAA1191 (D185G +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2211515	NM_020444.5(KIAA1191):c.785G>A (p.Arg262Gln)	KIAA1191 (R181Q +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2464178	NM_020444.5(KIAA1191):c.770G>T (p.Arg257Leu)	KIAA1191 (R257L +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2518563	NM_020444.5(KIAA1191):c.769C>T (p.Arg257Cys)	KIAA1191 (R176C +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2516340	NM_020444.5(KIAA1191):c.727G>A (p.Ala243Thr)	KIAA1191 (A224T +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2555266	NM_020444.5(KIAA1191):c.704A>G (p.Asp235Gly)	KIAA1191 (D216G +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2656085	NM_020444.5(KIAA1191):c.684G>A (p.Pro228=)	KIAA1191	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3114148	NM_020444.5(KIAA1191):c.643A>G (p.Lys215Glu)	KIAA1191 (K215E +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2239287	NM_020444.5(KIAA1191):c.505C>G (p.Pro169Ala)	KIAA1191 (P150A +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2249786	NM_020444.5(KIAA1191):c.498G>C (p.Glu166Asp)	KIAA1191 (E147D +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3114147	NM_020444.5(KIAA1191):c.476G>A (p.Ser159Asn)	KIAA1191 (S78N +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2383392	NM_020444.5(KIAA1191):c.398C>T (p.Thr133Ile)	KIAA1191 (T114I +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2479475	NM_020444.5(KIAA1191):c.311T>C (p.Val104Ala)	KIAA1191 (V104A +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2518279	NM_020444.5(KIAA1191):c.184C>T (p.Arg62Cys)	KIAA1191 (R43C +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2302755	NM_020444.5(KIAA1191):c.169C>A (p.Pro57Thr)	KIAA1191 (P38T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3114146	NM_020444.5(KIAA1191):c.157G>A (p.Val53Ile)	KIAA1191 (V34I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3114149	NM_020444.5(KIAA1191):c.83G>A (p.Arg28His)	KIAA1191 (R28H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2204773	NM_020444.5(KIAA1191):c.82C>A (p.Arg28Ser)	KIAA1191 (R28S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3242320	GRCh37/hg19 5q35.2-35.3(chr5:175470000-177450000)x1	ARL10, B4GALT7 +37 more	Copy number loss	not provided	GPathogenic
Select item 2685186	GRCh37/hg19 5q35.2-35.3(chr5:175332333-177469711)x1	ARL10, B4GALT7 +38 more	Copy number loss	not provided	GPathogenic
Select item 2685184	GRCh37/hg19 5q35.1-35.2(chr5:171836503-176517734)x1	ARL10, ATP6V0E1 +37 more	Copy number loss	not provided	GPathogenic
Select item 2671584	Single allele	FAM193B, GPRIN1 +36 more	Deletion	not provided	GPathogenic
Select item 2425922	NC_000005.9:g.(?_175158654)_(179263593_?)dup	ADAMTS2, ARL10 +63 more	Duplication	not provided	GUncertain significance
Select item 1711097	GRCh37/hg19 5q35.1-35.3(chr5:170350336-180719789)x3	ADAMTS2, ARL10 +117 more	Copy number gain	See cases	GPathogenic
Select item 1703528	GRCh37/hg19 5q32-35.3(chr5:149010383-180719789)	ADAM19, ADAMTS2 +222 more	Copy number gain	Hunter-McAlpine craniosynostosis	GPathogenic
Select item 1340428	GRCh37/hg19 5q35.2(chr5:175668563-176182615)x3	ARL10, CDHR2 +11 more	Copy number gain	not provided	GUncertain significance
Select item 981214	GRCh37/hg19 5q35.1-35.3(chr5:170805664-180719789)x3	ADAMTS2, ARL10 +115 more	Copy number gain	5q35 microduplication syndrome	GPathogenic
Select item 979537	GRCh37/hg19 5q35.2-35.3(chr5:175394616-177436413)x3	ARL10, B4GALT7 +38 more	Copy number gain	not provided	GPathogenic
Select item 979536	GRCh37/hg19 5q35.2-35.3(chr5:175570677-177114151)x3	ARL10, B4GALT7 +34 more	Copy number gain	not provided	GPathogenic
Select item 975831	GRCh37/hg19 5q35.2-35.3(chr5:175346695-177469711)x1	RGS14, RNF44 +38 more	Copy number loss	Sotos syndrome	GPathogenic
Select item 686492	GRCh37/hg19 5q35.2(chr5:175601473-175814860)x1	ARL10, KIAA1191 +2 more	Copy number loss	not provided	GUncertain significance
Select item 685440	GRCh37/hg19 5q35.2-35.3(chr5:175570677-177439550)x3	ARL10, B4GALT7 +36 more	Copy number gain	not provided	GPathogenic
Select item 625703	GRCh37/hg19 5q35.2-35.3(chr5:174990352-180690937)	ADAMTS2, ARL10 +90 more	Copy number gain	not provided	GPathogenic
Select item 563128	GRCh37/hg19 5q35.2(chr5:175668563-176401296)x1	TSPAN17, EIF4E1B +14 more	Copy number loss	not provided	GUncertain significance
Select item 563127	GRCh37/hg19 5q35.2(chr5:175615624-175822818)x1	SIMC1, CLTB +4 more	Copy number loss	not provided	GLikely benign
Select item 563126	GRCh37/hg19 5q35.2-35.3(chr5:175570677-177436413)x1	ARL10, B4GALT7 +36 more	Copy number loss	not provided	GPathogenic
Select item 563125	GRCh37/hg19 5q35.2-35.3(chr5:175438045-177481250)x1	ARL10, B4GALT7 +37 more	Copy number loss	not provided	GPathogenic
Select item 443960	GRCh37/hg19 5q35.2-35.3(chr5:175570678-177437340)x1	ARL10, B4GALT7 +36 more	Copy number loss	See cases	GPathogenic
Select item 443249	GRCh37/hg19 5q35.2-35.3(chr5:175570677-177439550)x3	ARL10, B4GALT7 +36 more	Copy number gain	See cases	GPathogenic
Select item 443005	GRCh37/hg19 5q35.2-35.3(chr5:175570677-180719789)x1	ADAMTS2, ARL10 +86 more	Copy number loss	See cases	GPathogenic
Select item 442855	GRCh37/hg19 5q35.1-35.3(chr5:172031248-180719789)x3	ADAMTS2, ARL10 +106 more	Copy number gain	See cases	GPathogenic
Select item 442431	GRCh37/hg19 5p15.1-q35.2(chr5:17628741-176575720)x1	DHFR, DHX29 +738 more	Copy number loss	See cases	GPathogenic
Select item 442010	GRCh37/hg19 5q35.2-35.3(chr5:175438045-177392885)x1	ARL10, B4GALT7 +36 more	Copy number loss	See cases	GPathogenic
Select item 441920	GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789)	ABLIM3, ACOT12 +870 more	Copy number gain	See cases	GPathogenic
Select item 441919	GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789)x3	ABLIM3, ACOT12 +870 more	Copy number gain	See cases	GPathogenic
Select item 425542	GRCh37/hg19 5q15-35.3(chr5:94844077-178830410)x3	ARL10, ARL14EPL +511 more	Copy number gain	not provided	GLikely benign
Select item 394550	GRCh37/hg19 5q21.3-35.3(chr5:106716357-180687338)x3	HRH2, HSD17B4 +520 more	Copy number gain	See cases	GPathogenic
Select item 394090	GRCh37/hg19 5q35.2-35.3(chr5:175722788-177423091)x3	ARL10, B4GALT7 +36 more	Copy number gain	See cases	GPathogenic
Select item 187821	GRCh37/hg19 5q35.2-35.3(chr5:174397487-180686444)x1	BTNL9, C5orf60 +92 more	Copy number loss	See cases	GPathogenic

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Items: 69