25471[HGNC] - ClinVar

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Items: 48

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 148363	GRCh38/hg38 17q23.1-25.1(chr17:36449220-75053130)x3	AARSD1, AATF +2032 more	Copy number gain	See cases	GPathogenic
Select item 149337	GRCh38/hg38 17q24.2(chr17:67584224-68639875)x1	AMZ2, ARSG +62 more	Copy number loss	See cases	GPathogenic
Select item 59609	GRCh38/hg38 17q24.2-24.3(chr17:67833866-70085854)x1	ABCA10, ABCA5 +85 more	Copy number loss	See cases	GPathogenic
Select item 155046	GRCh38/hg38 17q24.2-24.3(chr17:68420514-71351235)x1	LOC129390924, LOC129390925 +59 more	Copy number loss	See cases	GPathogenic
Select item 3190574	NM_017983.7(WIPI1):c.1322G>A (p.Gly441Asp)	ARSG, PRKAR1A +1 more (G441D +1 more)	Single nucleotide variant (3 prime UTR variant +3 more)	not specified	GUncertain significance
Select item 2617959	NM_017983.7(WIPI1):c.1220G>A (p.Arg407Gln)	ARSG, PRKAR1A +1 more (R407Q +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2519721	NM_017983.7(WIPI1):c.1214C>T (p.Ala405Val)	ARSG, PRKAR1A +1 more (A323V +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 786658	NM_017983.7(WIPI1):c.1192+4G>A	ARSG, PRKAR1A +1 more	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2513367	NM_017983.7(WIPI1):c.1184C>T (p.Thr395Met)	ARSG, PRKAR1A +1 more (T313M +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3047301	NM_017983.7(WIPI1):c.1152C>T (p.Thr384=)	ARSG, PRKAR1A +1 more	Single nucleotide variant (synonymous variant +2 more)	WIPI1-related disorder	GLikely benign
Select item 3190573	NM_017983.7(WIPI1):c.1094C>G (p.Thr365Arg)	ARSG, PRKAR1A +1 more (T283R +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2326954	NM_017983.7(WIPI1):c.1069C>T (p.His357Tyr)	ARSG, PRKAR1A +1 more (H275Y +1 more)	Single nucleotide variant (3 prime UTR variant +3 more)	not specified	GUncertain significance
Select item 2299575	NM_017983.7(WIPI1):c.1046G>A (p.Gly349Glu)	PRKAR1A, WIPI1 +1 more (G267E +1 more)	Single nucleotide variant (3 prime UTR variant +3 more)	not specified	GUncertain significance
Select item 3333126	NM_017983.7(WIPI1):c.1045G>A (p.Gly349Arg)	ARSG, PRKAR1A +1 more (G267R +1 more)	Single nucleotide variant (3 prime UTR variant +3 more)	not specified	GUncertain significance
Select item 626260	NM_017983.7(WIPI1):c.983G>A (p.Arg328Gln)	ARSG, PRKAR1A +1 more (R246Q +1 more)	Single nucleotide variant (3 prime UTR variant +3 more)	Neural tube defect	GAffects
Select item 2544480	NM_017983.7(WIPI1):c.950T>A (p.Ile317Asn)	ARSG, PRKAR1A +1 more (I317N +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 716489	NM_017983.7(WIPI1):c.923G>A (p.Arg308His)	ARSG, PRKAR1A +1 more (R308H +1 more)	Single nucleotide variant (missense variant +2 more)	not provided	GBenign
Select item 2225566	NM_017983.7(WIPI1):c.922C>T (p.Arg308Cys)	ARSG, PRKAR1A +1 more (R226C +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2255928	NM_017983.7(WIPI1):c.917C>T (p.Thr306Ile)	ARSG, PRKAR1A +1 more (T224I +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3333127	NM_017983.7(WIPI1):c.889A>G (p.Met297Val)	ARSG, PRKAR1A +1 more (M215V +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2588786	NM_017983.7(WIPI1):c.847T>C (p.Phe283Leu)	ARSG, PRKAR1A +1 more (F201L +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2325263	NM_017983.7(WIPI1):c.832T>A (p.Tyr278Asn)	ARSG, PRKAR1A +1 more (Y278N +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2300421	NM_017983.7(WIPI1):c.793A>G (p.Thr265Ala)	ARSG, PRKAR1A +1 more (T183A +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2393222	NM_017983.7(WIPI1):c.760G>A (p.Glu254Lys)	ARSG, PRKAR1A +1 more (E254K +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3333131	NM_017983.7(WIPI1):c.722G>A (p.Ser241Asn)	ARSG, PRKAR1A +1 more (S159N +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3045393	NM_017983.7(WIPI1):c.687G>A (p.Met229Ile)	ARSG, PRKAR1A +1 more (M147I +1 more)	Single nucleotide variant (missense variant +2 more)	WIPI1-related disorder	GLikely benign
Select item 2249374	NM_017983.7(WIPI1):c.649C>G (p.Pro217Ala)	ARSG, PRKAR1A +1 more (P217A +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2280776	NM_017983.7(WIPI1):c.616G>A (p.Glu206Lys)	ARSG, PRKAR1A +1 more (E206K +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3190578	NM_017983.7(WIPI1):c.556G>A (p.Glu186Lys)	ARSG, PRKAR1A +1 more (E104K +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2515115	NM_017983.7(WIPI1):c.473C>T (p.Ala158Val)	ARSG, PRKAR1A +1 more (A76V +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3333125	NM_017983.7(WIPI1):c.328C>T (p.Arg110Trp)	ARSG, PRKAR1A +1 more (R28W +1 more)	Single nucleotide variant (3 prime UTR variant +3 more)	not specified	GUncertain significance
Select item 3333128	NM_017983.7(WIPI1):c.242G>A (p.Arg81Gln)	ARSG, PRKAR1A +1 more (R81Q)	Single nucleotide variant (3 prime UTR variant +4 more)	not specified	GUncertain significance
Select item 791202	NM_017983.7(WIPI1):c.237A>G (p.Lys79=)	ARSG, PRKAR1A +1 more	Single nucleotide variant (3 prime UTR variant +4 more)	not provided	GBenign
Select item 3333129	NM_017983.7(WIPI1):c.194G>A (p.Arg65His)	ARSG, PRKAR1A +1 more (R65H)	Single nucleotide variant (3 prime UTR variant +4 more)	not specified	GUncertain significance
Select item 3190577	NM_017983.7(WIPI1):c.187G>A (p.Val63Met)	ARSG, PRKAR1A +1 more (V63M)	Single nucleotide variant (3 prime UTR variant +4 more)	not specified	GUncertain significance
Select item 3190576	NM_017983.7(WIPI1):c.175G>T (p.Asp59Tyr)	ARSG, PRKAR1A +1 more (D59Y)	Single nucleotide variant (3 prime UTR variant +4 more)	not specified	GUncertain significance
Select item 3333130	NM_017983.7(WIPI1):c.157G>C (p.Gly53Arg)	PRKAR1A, WIPI1 (G53R)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3190575	NM_017983.7(WIPI1):c.154C>T (p.His52Tyr)	PRKAR1A, WIPI1 (H52Y)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3063496	GRCh37/hg19 17q24.2-24.3(chr17:66271342-67205346)x3	ABCA10, ABCA6 +7 more	Copy number gain	not specified	GUncertain significance
Select item 1411885	NC_000017.10:g.(?_66303635)_(66596807_?)dup	ARSG, FAM20A +2 more	Duplication	not provided	GUncertain significance
Select item 689209	GRCh37/hg19 17q24.1-25.3(chr17:62778720-81041938)x3	AANAT, AATK +226 more	Copy number gain	not provided	GPathogenic
Select item 685257	GRCh37/hg19 17q23.1-24.2(chr17:57869604-67078443)x3	ABCA6, ABCA8 +79 more	Copy number gain	not provided	GPathogenic
Select item 624519	GRCh37/hg19 17q24.1-25.2(chr17:64159738-74891024)x3	LLGL2, MAP2K6 +119 more	Copy number gain	not provided	GLikely pathogenic
Select item 564463	GRCh37/hg19 17q24.1-25.3(chr17:63689671-81041938)x3	AANAT, AATK +222 more	Copy number gain	not provided	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 395646	GRCh37/hg19 17q21.31-25.3(chr17:42580684-81085615)x3	AANAT, AATK +458 more	Copy number gain	See cases	GPathogenic
Select item 393910	GRCh37/hg19 17q24.2-24.3(chr17:65343022-69344022)x3	ABCA10, ABCA5 +18 more	Copy number gain	See cases	GUncertain significance

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Items: 48