GRAMD2B[gene] - ClinVar

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Items: 49

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 151143	GRCh38/hg38 5q14.3-23.3(chr5:90374606-128076423)x1	LOC129994523, LOC129994524 +683 more	Copy number loss	See cases	GPathogenic
Select item 155679	GRCh38/hg38 5q14.3-31.1(chr5:91411708-131319563)x1	LOC126807500, LOC126807501 +689 more	Copy number loss	See cases	GPathogenic
Select item 59672	GRCh38/hg38 5q21.3-33.2(chr5:106619588-156124387)x1	ABLIM3, ACSL6 +1672 more	Copy number loss	See cases	GPathogenic
Select item 150374	GRCh38/hg38 5q22.1-23.3(chr5:110687442-130103838)x1	LOC129389350, LOC129389351 +377 more	Copy number loss	See cases	GPathogenic
Select item 146237	GRCh38/hg38 5q22.1-23.2(chr5:111463016-127193038)x1	ALDH7A1, AP3S1 +317 more	Copy number loss	See cases	GPathogenic
Select item 145546	GRCh38/hg38 5q22.3-23.2(chr5:114707561-126507744)x1	AP3S1, ARL14EPL +228 more	Copy number loss	See cases	GPathogenic
Select item 59673	GRCh38/hg38 5q23.1-31.1(chr5:116677122-132686163)x1	LOC129994580, LOC129994581 +336 more	Copy number loss	See cases	GPathogenic
Select item 58355	GRCh38/hg38 5q23.1-23.2(chr5:120739630-126823984)x1	ALDH7A1, CEP120 +105 more	Copy number loss	See cases	GPathogenic
Select item 147446	GRCh38/hg38 5q23.2(chr5:122479268-126833168)x1	ALDH7A1, CEP120 +86 more	Copy number loss	See cases	GUncertain significance
Select item 148931	GRCh38/hg38 5q23.2(chr5:125372857-126839014)x3	ALDH7A1, GRAMD2B +27 more	Copy number gain	See cases	GUncertain significance
Select item 58356	GRCh38/hg38 5q23.2-31.1(chr5:126438406-132873967)x1	LOC129994513, LOC129994514 +200 more	Copy number loss	See cases	GPathogenic
Select item 58357	GRCh38/hg38 5q23.2-23.3(chr5:126458947-128537986)x1	ALDH7A1, C5orf63 +49 more	Copy number loss	See cases	GPathogenic
Select item 3102183	NM_023927.4(GRAMD2B):c.101G>C (p.Gly34Ala)	GRAMD2B (G18A +3 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3102184	NM_023927.4(GRAMD2B):c.131C>T (p.Ser44Leu)	GRAMD2B (R38C +3 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3102185	NM_023927.4(GRAMD2B):c.137C>G (p.Thr46Arg)	GRAMD2B (Q40E +3 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3282596	NM_023927.4(GRAMD2B):c.140C>T (p.Ala47Val)	GRAMD2B (A47V +3 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3102186	NM_023927.4(GRAMD2B):c.167C>T (p.Ala56Val)	GRAMD2B (R50W +3 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3102187	NM_023927.4(GRAMD2B):c.168G>A (p.Ala56=)	GRAMD2B (R50Q)	Single nucleotide variant (synonymous variant +3 more)	not specified	GLikely benign
Select item 3282599	NM_023927.4(GRAMD2B):c.235G>A (p.Ala79Thr)	GRAMD2B (A63T +3 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3282600	NM_023927.4(GRAMD2B):c.236C>T (p.Ala79Val)	GRAMD2B (A79V +3 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3102188	NM_023927.4(GRAMD2B):c.246G>C (p.Lys82Asn)	GRAMD2B (K90N +3 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3102189	NM_023927.4(GRAMD2B):c.367G>A (p.Glu123Lys)	GRAMD2B (E107K +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3102190	NM_023927.4(GRAMD2B):c.619T>C (p.Tyr207His)	GRAMD2B (Y103H +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3282597	NM_023927.4(GRAMD2B):c.700A>G (p.Ser234Gly)	GRAMD2B (S242G +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3282595	NM_023927.4(GRAMD2B):c.716G>A (p.Arg239His)	GRAMD2B (R135H +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3102191	NM_023927.4(GRAMD2B):c.736G>T (p.Asp246Tyr)	GRAMD2B (D230Y +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3102193	NM_023927.4(GRAMD2B):c.767G>C (p.Gly256Ala)	GRAMD2B (G152A +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3282601	NM_023927.4(GRAMD2B):c.769G>A (p.Val257Met)	GRAMD2B (V272M +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2532227	NM_023927.4(GRAMD2B):c.790G>A (p.Asp264Asn)	GRAMD2B (D264N +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2519172	NM_023927.4(GRAMD2B):c.845G>A (p.Arg282Gln)	GRAMD2B (R290Q +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3102194	NM_023927.4(GRAMD2B):c.941A>C (p.Glu314Ala)	GRAMD2B (E210A +8 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3102180	NM_023927.4(GRAMD2B):c.1004T>C (p.Val335Ala)	GRAMD2B (V232A +8 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2588986	NM_023927.4(GRAMD2B):c.1022C>T (p.Pro341Leu)	GRAMD2B (P326L +8 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3102181	NM_023927.4(GRAMD2B):c.1079C>T (p.Ser360Leu)	GRAMD2B (S344L +8 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3102182	NM_023927.4(GRAMD2B):c.1141A>G (p.Ile381Val)	GRAMD2B (I277V +8 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2535278	NM_023927.4(GRAMD2B):c.1144G>A (p.Val382Met)	GRAMD2B (V278M +8 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3242297	GRCh37/hg19 5q23.2-31.1(chr5:124864529-134720575)x1	FSTL4, GDF9 +63 more	Copy number loss	not provided	GPathogenic
Select item 3062826	GRCh37/hg19 5q23.2-23.3(chr5:125506060-128162785)x3	ALDH7A1, C5orf63 +10 more	Copy number gain	not specified	GPathogenic
Select item 1809359	GRCh37/hg19 5q22.2-23.3(chr5:112557391-128106299)x1	ALDH7A1, AP3S1 +46 more	Copy number loss	not provided	GPathogenic
Select item 1706508	GRCh37/hg19 5q23.2-23.3(chr5:124997035-128900524)x1	ADAMTS19, FBN2 +13 more	Copy number loss	See cases	GPathogenic
Select item 1527183	GRCh37/hg19 5q21.1-23.2(chr5:100607918-125900735)	CAMK4, CCDC112 +60 more	Copy number loss	not specified	GPathogenic
Select item 688598	GRCh37/hg19 5q14.3-23.3(chr5:89949118-129317455)x3	ADAMTS19, ADGRV1 +104 more	Copy number gain	not provided	GPathogenic
Select item 635930	Single allele	C5orf24, C5orf34 +600 more	Deletion	Neurodevelopmental disorder	GUncertain significance
Select item 457359	NC_000005.9:g.(?_86400000)_(154000000_?)del	CCDC69, CCNH +385 more	Deletion	Familial adenomatous polyposis 1 +1 more	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 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

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Items: 49