14681[HGNC] - ClinVar

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Items: 64

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 146596	GRCh38/hg38 20p13-q13.33(chr20:99557-64277321)x3	JPH2, KAT14 +2522 more	Copy number gain	See cases	GPathogenic
Select item 59218	GRCh38/hg38 20q13.12-13.33(chr20:44787704-64277321)x3	ABHD16B, ACOT8 +1024 more	Copy number gain	See cases	GPathogenic
Select item 58973	GRCh38/hg38 20q13.13-13.2(chr20:49731076-51202566)x1	ADNP, ADNP-AS1 +124 more	Copy number loss	See cases	GPathogenic
Select item 2220322	NM_006038.4(SPATA2):c.1552G>A (p.Val518Met)	SPATA2 (V518M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2303716	NM_006038.4(SPATA2):c.1471C>G (p.Pro491Ala)	SPATA2 (P491A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2463701	NM_006038.4(SPATA2):c.1394G>A (p.Arg465His)	SPATA2 (R465H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2249275	NM_006038.4(SPATA2):c.1342T>A (p.Ser448Thr)	SPATA2 (S448T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3168239	NM_006038.4(SPATA2):c.1324C>T (p.Arg442Cys)	SPATA2 (R442C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2475249	NM_006038.4(SPATA2):c.1321G>A (p.Asp441Asn)	SPATA2 (D441N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3168238	NM_006038.4(SPATA2):c.1310C>A (p.Thr437Asn)	SPATA2 (T437N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2204869	NM_006038.4(SPATA2):c.1276G>A (p.Gly426Arg)	SPATA2 (G426R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3321865	NM_006038.4(SPATA2):c.1270G>A (p.Ala424Thr)	SPATA2 (A424T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3321867	NM_006038.4(SPATA2):c.1231A>C (p.Ser411Arg)	SPATA2 (S411R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2405007	NM_006038.4(SPATA2):c.1189C>T (p.Arg397Cys)	SPATA2 (R397C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3321864	NM_006038.4(SPATA2):c.1171A>G (p.Ser391Gly)	SPATA2 (S391G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3321866	NM_006038.4(SPATA2):c.1169G>A (p.Cys390Tyr)	SPATA2 (C390Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3168236	NM_006038.4(SPATA2):c.1111C>T (p.Arg371Cys)	SPATA2 (R371C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2343906	NM_006038.4(SPATA2):c.1094A>G (p.His365Arg)	SPATA2 (H365R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2389720	NM_006038.4(SPATA2):c.1091C>G (p.Ala364Gly)	SPATA2 (A364G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2246777	NM_006038.4(SPATA2):c.997G>C (p.Asp333His)	SPATA2 (D333H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2555365	NM_006038.4(SPATA2):c.983A>G (p.Tyr328Cys)	SPATA2 (Y328C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2601617	NM_006038.4(SPATA2):c.976G>A (p.Gly326Ser)	SPATA2 (G326S)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2324058	NM_006038.4(SPATA2):c.974G>A (p.Arg325His)	SPATA2 (R325H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2551142	NM_006038.4(SPATA2):c.926C>G (p.Pro309Arg)	SPATA2 (P309R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2315486	NM_006038.4(SPATA2):c.908G>A (p.Ser303Asn)	SPATA2 (S303N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2315485	NM_006038.4(SPATA2):c.903G>T (p.Met301Ile)	SPATA2 (M301I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3168245	NM_006038.4(SPATA2):c.860T>C (p.Leu287Pro)	SPATA2 (L287P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2391354	NM_006038.4(SPATA2):c.853G>A (p.Asp285Asn)	SPATA2 (D285N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3168244	NM_006038.4(SPATA2):c.842C>T (p.Thr281Met)	SPATA2 (T281M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2294171	NM_006038.4(SPATA2):c.838G>T (p.Ala280Ser)	SPATA2 (A280S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2610971	NM_006038.4(SPATA2):c.815T>G (p.Leu272Trp)	SPATA2 (L272W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2410871	NM_006038.4(SPATA2):c.791G>A (p.Arg264Gln)	SPATA2 (R264Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2263163	NM_006038.4(SPATA2):c.758C>T (p.Ser253Leu)	SPATA2 (S253L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3321862	NM_006038.4(SPATA2):c.706G>A (p.Glu236Lys)	SPATA2 (E236K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2483697	NM_006038.4(SPATA2):c.689T>C (p.Leu230Pro)	SPATA2 (L230P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3321863	NM_006038.4(SPATA2):c.638G>A (p.Arg213Gln)	SPATA2 (R213Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2229903	NM_006038.4(SPATA2):c.634C>T (p.Arg212Trp)	SPATA2 (R212W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2220575	NM_006038.4(SPATA2):c.628G>A (p.Ala210Thr)	SPATA2 (A210T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2616400	NM_006038.4(SPATA2):c.594G>T (p.Lys198Asn)	SPATA2 (K198N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3168243	NM_006038.4(SPATA2):c.568G>A (p.Glu190Lys)	SPATA2 (E190K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2474056	NM_006038.4(SPATA2):c.545A>G (p.Gln182Arg)	SPATA2 (Q182R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2593517	NM_006038.4(SPATA2):c.511G>A (p.Val171Ile)	SPATA2 (V171I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2512523	NM_006038.4(SPATA2):c.428A>T (p.Glu143Val)	SPATA2 (E143V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2521896	NM_006038.4(SPATA2):c.410G>T (p.Cys137Phe)	SPATA2 (C137F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3168242	NM_006038.4(SPATA2):c.385G>A (p.Glu129Lys)	SPATA2 (E129K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3168241	NM_006038.4(SPATA2):c.364G>A (p.Val122Ile)	SPATA2 (V122I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2289646	NM_006038.4(SPATA2):c.283G>A (p.Val95Met)	SPATA2 (V95M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2268720	NM_006038.4(SPATA2):c.262G>A (p.Ala88Thr)	SPATA2 (A88T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2527818	NM_006038.4(SPATA2):c.248G>A (p.Arg83Gln)	SPATA2 (R83Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2652392	NM_006038.4(SPATA2):c.225C>T (p.Arg75=)	SPATA2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3168240	NM_006038.4(SPATA2):c.184C>T (p.Arg62Trp)	SPATA2 (R62W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2528311	NM_006038.4(SPATA2):c.130G>A (p.Val44Met)	SPATA2 (V44M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3168237	NM_006038.4(SPATA2):c.128G>A (p.Arg43Gln)	SPATA2 (R43Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2270035	NM_006038.4(SPATA2):c.113G>A (p.Ser38Asn)	SPATA2 (S38N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2393975	NM_006038.4(SPATA2):c.49C>T (p.Arg17Trp)	SPATA2 (R17W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1807864	GRCh37/hg19 20q13.13(chr20:48352572-48766664)x3	PEDS1, PEDS1-UBE2V1 +6 more	Copy number gain	not provided	GUncertain significance
Select item 1330181	GRCh37/hg19 20q13.12-13.13(chr20:42985044-48599046)x1	PREX1, PTGIS +79 more	Copy number loss	Developmental and epileptic encephalopathy, 26	GPathogenic
Select item 688025	GRCh37/hg19 20q13.13(chr20:48023123-48581111)x1	B4GALT5, KCNB1 +4 more	Copy number loss	not provided	GUncertain significance
Select item 560064	Single allele	ADNP, ARFGEF2 +27 more	Duplication	not provided	GUncertain significance
Select item 443773	GRCh37/hg19 20q13.13-13.2(chr20:47627844-52045480)x1	ADNP, ARFGEF2 +28 more	Copy number loss	See cases	GPathogenic
Select item 443340	GRCh37/hg19 20p13-q13.33(chr20:61569-62915555)x3	AAR2, ABHD12 +540 more	Copy number gain	See cases	GPathogenic
Select item 443339	GRCh37/hg19 20p13-q13.33(chr20:61569-62915555)	AAR2, ABHD12 +540 more	Copy number gain	See cases	GPathogenic
Select item 442502	GRCh37/hg19 20q13.13-13.2(chr20:47726521-50427649)x1	SPATA2, STAU1 +24 more	Copy number loss	See cases	GLikely pathogenic
Select item 187826	GRCh37/hg19 20q13.13-13.2(chr20:47682662-49884981)x1	KCNG1, SPATA2 +22 more	Copy number loss	See cases	GLikely pathogenic

ClinVar

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Items: 64