ClinVar for Gene (Select 56850) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3282836	NM_020137.5(GRIPAP1):c.67A>G (p.Asn23Asp)	GRIPAP1 (N23D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3282835	NM_020137.5(GRIPAP1):c.2107C>G (p.Leu703Val)	GRIPAP1 (L703V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3282833	NM_020137.5(GRIPAP1):c.1795G>A (p.Gly599Arg)	GRIPAP1 (G599R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3282832	NM_020137.5(GRIPAP1):c.1643A>G (p.Lys548Arg)	GRIPAP1 (K548R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3282831	NM_020137.5(GRIPAP1):c.1580G>A (p.Arg527Gln)	GRIPAP1 (R527Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3282830	NM_020137.5(GRIPAP1):c.1723G>A (p.Ala575Thr)	GRIPAP1 (A575T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3244684	NC_000023.10:g.(?_46466387)_(51241672_?)dup	AKAP4, ARAF +91 more	Duplication	Epilepsy, X-linked 1, with variable learning disabilities and behavior disorders	GUncertain significance
Select item 3242589	GRCh38/hg38 Xp22.33-q28(chrX:2757837-156030895)x2	LOC130068417, LOC130068418 +2599 more	Copy number gain	Klinefelter syndrome	GPathogenic
Select item 3102585	NM_020137.5(GRIPAP1):c.985G>A (p.Glu329Lys)	GRIPAP1 (E329K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3102584	NM_020137.5(GRIPAP1):c.487G>A (p.Gly163Arg)	GRIPAP1 (G163R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3102583	NM_020137.5(GRIPAP1):c.470G>A (p.Arg157His)	GRIPAP1 (R157H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3102581	NM_020137.5(GRIPAP1):c.1652G>A (p.Arg551Gln)	GRIPAP1 (R551Q)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3102580	NM_020137.5(GRIPAP1):c.1369C>T (p.Arg457Trp)	GRIPAP1 (R457W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3102579	NM_020137.5(GRIPAP1):c.1319C>T (p.Thr440Met)	GRIPAP1 (T440M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3102577	NM_020137.5(GRIPAP1):c.1254A>C (p.Glu418Asp)	GRIPAP1 (E418D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3062511	GRCh37/hg19 Xp22.33-11.1(chrX:168546-58364114)	ACE2, ACOT9 +314 more	Copy number loss	not specified	GPathogenic
Select item 3062471	GRCh37/hg19 Xp22.33-11.21(chrX:168546-55653170)	ACE2, ACOT9 +305 more	Copy number loss	not specified	GPathogenic
Select item 2685708	GRCh37/hg19 Xp21.1-11.22(chrX:36355238-54106257)x1	CCDC22, CFP +155 more	Copy number loss	not provided	GPathogenic
Select item 2685690	GRCh37/hg19 Xp22.33-11.22(chrX:2696762-53113314)x1	HDAC6, RGN +275 more	Copy number loss	not provided	GPathogenic
Select item 2684980	GRCh37/hg19 Xp11.23-11.22(chrX:48224455-52832596)x3	AKAP4, BMP15 +75 more	Copy number gain	not provided	GPathogenic
Select item 2660497	NM_020137.5(GRIPAP1):c.939A>G (p.Leu313=)	GRIPAP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2660496	NM_020137.5(GRIPAP1):c.1706G>A (p.Arg569Gln)	GRIPAP1 (R569Q)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2607224	NM_020137.5(GRIPAP1):c.2027T>C (p.Leu676Ser)	GRIPAP1 (L676S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2598647	NM_020137.5(GRIPAP1):c.896G>A (p.Arg299Gln)	GRIPAP1 (R299Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2595136	NM_020137.5(GRIPAP1):c.592A>G (p.Met198Val)	GRIPAP1 (M198V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2558759	NM_020137.5(GRIPAP1):c.1980G>C (p.Gln660His)	GRIPAP1 (Q660H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2506546	GRCh37/hg19 Xp22.33-q28(chrX:200855-155240074)	ABCB7, ABCD1 +818 more	Copy number gain	Klinefelter syndrome	GPathogenic
Select item 2493497	NM_020137.5(GRIPAP1):c.481G>A (p.Glu161Lys)	GRIPAP1 (E161K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2445496	NC_000023.10:g.(?_46466387)_(51241672_?)del	AKAP4, ARAF +91 more	Deletion	not provided	GPathogenic
Select item 2429772	NM_020137.5(GRIPAP1):c.1669G>A (p.Glu557Lys)	GRIPAP1 (E557K)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 2425881	NC_000023.10:g.(?_46466387)_(50659607_?)del	GAGE12E, GAGE12F +89 more	Deletion	Insulin-dependent diabetes mellitus secretory diarrhea syndrome	GPathogenic
Select item 2425308	NC_000023.10:g.(?_48368209)_(51241672_?)del	AKAP4, BMP15 +60 more	Deletion	not provided	GPathogenic
Select item 2423581	NC_000023.10:g.(?_47001716)_(50659607_?)dup	AKAP4, ARAF +85 more	Duplication	Epilepsy, X-linked 1, with variable learning disabilities and behavior disorders +2 more	GUncertain significance
Select item 2422979	NC_000023.10:g.(?_48368209)_(51241672_?)dup	CCDC120, CCDC22 +60 more	Duplication	SLC35A2-congenital disorder of glycosylation +4 more	GUncertain significance
Select item 2371498	NM_020137.5(GRIPAP1):c.10G>T (p.Ala4Ser)	GRIPAP1 (A4S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2358258	NM_020137.5(GRIPAP1):c.1148A>G (p.Gln383Arg)	GRIPAP1 (Q383R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2290814	NM_020137.5(GRIPAP1):c.26A>C (p.Glu9Ala)	GRIPAP1 (E9A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2279833	NM_020137.5(GRIPAP1):c.1693C>G (p.Leu565Val)	GRIPAP1 (L565V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2272122	NM_020137.5(GRIPAP1):c.821A>T (p.Gln274Leu)	GRIPAP1 (Q274L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2257845	NM_020137.5(GRIPAP1):c.397G>A (p.Val133Met)	GRIPAP1 (V133M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2255364	NM_020137.5(GRIPAP1):c.1187G>A (p.Arg396Gln)	GRIPAP1 (R396Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1808658	GRCh37/hg19 Xp11.4-11.22(chrX:39525562-52832596)x3	AKAP4, ARAF +126 more	Copy number gain	not provided	GPathogenic
Select item 1707442	GRCh37/hg19 Xp22.2-q28(chrX:11522765-155233731)x1	ABCB7, ABCD1 +790 more	Copy number loss	See cases	GPathogenic
Select item 1704345	GRCh37/hg19 Xp22.33-q28(chrX:61545-155226048)x2	ABCB7, ABCD1 +818 more	Copy number gain	Klinefelter syndrome	GPathogenic
Select item 1703583	GRCh37/hg19 Xp22.33-11.21(chrX:168546-57841304)	ACE2, ACOT9 +315 more	Copy number loss	Turner syndrome	GPathogenic
Select item 1703582	Single allele	ADGRG2, ACE2 +309 more	Complex	Turner syndrome	GPathogenic
Select item 1703581	GRCh37/hg19 Xp22.33-11.22(chrX:168546-52573789)	ACE2, ACOT9 +267 more	Copy number loss	Turner syndrome	GPathogenic
Select item 1703580	GRCh37/hg19 Xp22.33-q28(chrX:1-155270560)	ABCB7, ABCD1 +819 more	Copy number loss	Turner syndrome	GPathogenic
Select item 1703579	GRCh37/hg19 Xp22.33-q28(chrX:1-155270560)	AKAP14, CT47A11 +819 more	Copy number gain	Hypotonia +2 more	GPathogenic
Select item 1341233	GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x1	RADX, RAI2 +818 more	Copy number loss	not provided	GPathogenic
Select item 1341223	GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x3	GPM6B, KLHL15 +818 more	Copy number gain	not provided	GPathogenic
Select item 1180551	GRCh37/hg19 Xp22.33-q28(chrX:60000-155234966)x1	KLHL34, KLHL4 +818 more	Copy number loss	not provided	GPathogenic
Select item 1180517	GRCh37/hg19 Xp11.23-11.22(chrX:47179068-54424785)x2	FAM156B, FOXP3 +109 more	Copy number gain	not provided	GPathogenic
Select item 1064845	NM_020137.5(GRIPAP1):c.1474C>T (p.Arg492Trp)	GRIPAP1 (R492W)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder +1 more	GUncertain significance
Select item 1007859	NC_000023.10:g.(?_48382160)_(49856876_?)dup	CACNA1F, CCDC120 +52 more	Duplication	SLC35A2-congenital disorder of glycosylation +1 more	GUncertain significance
Select item 992647	GRCh37/hg19 Xp22.33-11.21(chrX:168546-56457794)x1	ACE2, ACOT9 +309 more	Copy number loss	not provided	GPathogenic
Select item 983193	GRCh37/hg19 Xp22.33-11.21(chrX:219609-55466476)x1	ACE2, ACOT9 +304 more	Copy number loss	See cases	GPathogenic
Select item 979778	GRCh37/hg19 Xp11.23-11.22(chrX:48178413-52686510)x2	AKAP4, BMP15 +73 more	Copy number gain	not provided	GPathogenic
Select item 979777	GRCh37/hg19 Xp11.23-11.22(chrX:48102202-52685635)x2	AKAP4, BMP15 +74 more	Copy number gain	not provided	GPathogenic
Select item 871499	NM_020137.5(GRIPAP1):c.1544T>C (p.Val515Ala)	GRIPAP1 (V515A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 816349	GRCh37/hg19 Xp11.23-11.22(chrX:48307437-50657313)x3	AKAP4, BMP15 +60 more	Copy number gain	not provided	GPathogenic
Select item 816270	GRCh37/hg19 Xp22.33-11.21(chrX:539722-55509385)x1	ACE2, ACOT9 +305 more	Copy number loss	not provided	GPathogenic
Select item 810593	NM_020137.5(GRIPAP1):c.107T>C (p.Val36Ala)	GRIPAP1 (V36A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 810592	NM_020137.5(GRIPAP1):c.895C>T (p.Arg299Trp)	GRIPAP1 (R299W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 787156	NM_020137.5(GRIPAP1):c.2352= (p.Gly784=)	GRIPAP1	Variation (no sequence alteration)	not provided	GBenign
Select item 774973	NM_020137.5(GRIPAP1):c.477G>A (p.Gly159=)	GRIPAP1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 769217	NM_020137.5(GRIPAP1):c.2352T>C (p.Gly784=)	GRIPAP1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 760229	NM_020137.5(GRIPAP1):c.75C>T (p.Tyr25=)	GRIPAP1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 724672	NM_020137.5(GRIPAP1):c.218G>A (p.Ser73Asn)	GRIPAP1 (S73N)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 718484	NM_020137.5(GRIPAP1):c.2525A>G (p.Ter842=)	GRIPAP1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 717435	NM_020137.5(GRIPAP1):c.199-4G>A	GRIPAP1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 694513	46,Y,inv(X)(p21.1q13.3)	ABCB7, AKAP4 +268 more	Inversion	Elevated circulating creatine kinase concentration	GLikely pathogenic
Select item 688137	GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x1	ARHGAP36, ARHGAP4 +818 more	Copy number loss	not provided	GPathogenic
Select item 687087	GRCh37/hg19 Xp11.23-11.22(chrX:48224266-52744574)x2	NUDT10, NUDT11 +73 more	Copy number gain	not provided	GPathogenic
Select item 685565	GRCh37/hg19 Xp22.33-q11.1(chrX:168546-61877279)x1	RBBP7, RBM10 +316 more	Copy number loss	not provided	GPathogenic
Select item 685331	GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x4	BEX1, BEX2 +818 more	Copy number gain	not provided	GPathogenic
Select item 684962	GRCh37/hg19 Xp11.4-q21.32(chrX:40572613-92796528)x1	ABCB7, AKAP4 +281 more	Copy number loss	not provided	GPathogenic
Select item 638115	GRCh37/hg19 Xp22.33-11.22(chrX:60814-50519984)x1	ACE2, ACOT9 +257 more	Copy number loss	See cases	GPathogenic
Select item 626291	Single allele	AKAP14, CCDC22 +733 more	Duplication	Syndromic X-linked intellectual disability Lubs type	GPathogenic
Select item 625640	GRCh37/hg19 Xp11.3-11.23(chrX:43507300-48929622)	ARAF, CCDC120 +64 more	Copy number gain	not provided	GPathogenic
Select item 564842	GRCh37/hg19 Xp11.23-11.22(chrX:48156672-52672728)x1	AKAP4, BMP15 +72 more	Copy number loss	not provided	GPathogenic
Select item 564772	GRCh37/hg19 Xp22.31-q21.31(chrX:7841947-90815333)x1,2	RPS6KA6, UPRT +413 more	Copy number gain	not provided	GPathogenic
Select item 545551	NC_000023.10:g.36649710_136649711del100000002insG	AMER1, AMMECR1 +541 more	Indel	Heterotaxy, visceral, 1, X-linked	GPathogenic
Select item 541111	NC_000023.10:g.(?_48755773)_(48935774_?)dup	CCDC120, GRIPAP1 +8 more	Duplication	SLC35A2-congenital disorder of glycosylation	GUncertain significance
Select item 488014	Single allele	ARSF, CFAP47 +2632 more	Duplication	Autism +1 more	GPathogenic
Select item 443974	GRCh37/hg19 Xp22.33-q28(chrX:168547-155233731)	ABCB7, ABCD1 +818 more	Copy number gain	See cases	GPathogenic
Select item 443946	GRCh37/hg19 Xp22.33-q23(chrX:168547-112474026)x1	EIF1AX, EIF2S3 +539 more	Copy number loss	See cases	GPathogenic
Select item 443504	GRCh37/hg19 Xp21.2-q28(chrX:31088082-155233731)x1	PNMA5, PNMA6A +695 more	Copy number loss	See cases	GPathogenic
Select item 443322	GRCh37/hg19 Xp22.33-11.1(chrX:168546-58527164)x1	ACE2, ACOT9 +314 more	Copy number loss	See cases	GPathogenic
Select item 443190	GRCh37/hg19 Xp11.23-11.22(chrX:48290189-52154997)x4	AKAP4, BMP15 +67 more	Copy number gain	See cases	GPathogenic
Select item 443184	GRCh37/hg19 Xp11.23-11.22(chrX:48224454-52813336)x3	AKAP4, BMP15 +74 more	Copy number gain	See cases	GPathogenic
Select item 443028	GRCh37/hg19 Xp22.33-11.21(chrX:168546-54996659)x1	SYN1, SYP +294 more	Copy number loss	See cases	GPathogenic
Select item 442832	GRCh37/hg19 Xp21.1-q22.1(chrX:37521774-98488534)x1	ABCB7, AKAP4 +300 more	Copy number loss	See cases	GPathogenic
Select item 442724	GRCh37/hg19 Xp22.33-q28(chrX:168547-151304063)x1	AP1S2, APEX2 +731 more	Copy number loss	See cases	GPathogenic
Select item 442354	GRCh37/hg19 Xp22.33-q13.3(chrX:168546-74549686)	ABCB7, ACE2 +390 more	Copy number loss	See cases	GPathogenic
Select item 442162	GRCh37/hg19 Xp22.33-11.21(chrX:168546-55240087)x1	AP1S2, APEX2 +300 more	Copy number loss	See cases	GPathogenic
Select item 442067	GRCh37/hg19 Xp22.33-11.21(chrX:168546-57504183)x1	ARSF, XAGE2 +312 more	Copy number loss	See cases	GPathogenic
Select item 441968	GRCh37/hg19 Xp22.33-11.21(chrX:168564-57413442)x1	AP1S2, APEX2 +312 more	Copy number loss	See cases	GPathogenic
Select item 441856	GRCh37/hg19 Xp22.33-11.21(chrX:168546-57683964)x1	WDR45, WNK3 +313 more	Copy number loss	See cases	GPathogenic
Select item 425520	GRCh37/hg19 Xp22.2-q25(chrX:11692290-121187337)x2	BEX4, BEX5 +566 more	Copy number gain	not provided	GUncertain significance

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