30632[HGNC] - ClinVar

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Items: 44

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 153441	GRCh38/hg38 2p25.3-22.3(chr2:12770-33711509)x3	LOC126806103, LOC126806104 +1047 more	Copy number gain	See cases	GPathogenic
Select item 146072	GRCh38/hg38 2p25.3-23.2(chr2:30341-28419664)x3	ABHD1, ACP1 +893 more	Copy number gain	See cases	GPathogenic
Select item 59133	GRCh38/hg38 2p25.3-16.1(chr2:66097-55570637)x3	LOC129933311, LOC129933312 +1631 more	Copy number gain	See cases	GPathogenic
Select item 155615	GRCh38/hg38 2p25.3-21(chr2:236816-45983232)x3	LINC01115, LINC01121 +1400 more	Copy number gain	See cases	GPathogenic
Select item 152995	GRCh38/hg38 2p25.1-11.2(chr2:7495123-87705899)x3	HAAO, HADHA +2457 more	Copy number gain	See cases	GBenign
Select item 153817	GRCh38/hg38 2p24.1-23.2(chr2:22579652-28525186)x1	TRY-GTA2-1, UBXN2A +321 more	Copy number loss	See cases	GPathogenic
Select item 2556364	NM_007266.4(GPN1):c.956C>T (p.Pro319Leu)	GPN1, SUPT7L (P240L +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2474150	NM_007266.4(GPN1):c.974C>G (p.Thr325Ser)	GPN1, SUPT7L (T246S +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2610838	NM_014860.3(SUPT7L):c.1184G>C (p.Ser395Thr)	LOC126806176, SUPT7L (S260T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2488434	NM_014860.3(SUPT7L):c.1166G>A (p.Gly389Asp)	LOC126806176, SUPT7L (G387D +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2477838	NM_014860.3(SUPT7L):c.1114A>G (p.Met372Val)	LOC126806176, SUPT7L (M372V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2357810	NM_014860.3(SUPT7L):c.1063T>G (p.Ser355Ala)	LOC126806176, SUPT7L (S353A +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2510036	NM_014860.3(SUPT7L):c.1052A>G (p.Glu351Gly)	LOC126806176, SUPT7L (E216G +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2494554	NM_014860.3(SUPT7L):c.944C>T (p.Pro315Leu)	SUPT7L (P313L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2295644	NM_014860.3(SUPT7L):c.893G>A (p.Gly298Glu)	SUPT7L (G163E +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2593773	NM_014860.3(SUPT7L):c.859G>A (p.Val287Ile)	SUPT7L (V285I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3172195	NM_014860.3(SUPT7L):c.807C>G (p.Asp269Glu)	SUPT7L (D267E +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2331479	NM_014860.3(SUPT7L):c.663T>A (p.His221Gln)	SUPT7L (H86Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2391646	NM_014860.3(SUPT7L):c.649G>C (p.Glu217Gln)	SUPT7L (E82Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2457691	NM_014860.3(SUPT7L):c.648G>A (p.Met216Ile)	SUPT7L (M214I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2215904	NM_014860.3(SUPT7L):c.622G>A (p.Gly208Arg)	SUPT7L (G206R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2595406	NM_014860.3(SUPT7L):c.608G>A (p.Arg203Gln)	SUPT7L (R68Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2520035	NM_014860.3(SUPT7L):c.524A>T (p.Asn175Ile)	SUPT7L (N173I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2547041	NM_014860.3(SUPT7L):c.491C>T (p.Thr164Ile)	SUPT7L (T29I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2294980	NM_014860.3(SUPT7L):c.491C>G (p.Thr164Arg)	SUPT7L (T162R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2402002	NM_014860.3(SUPT7L):c.464G>A (p.Arg155Gln)	SUPT7L (R155Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2517999	NM_014860.3(SUPT7L):c.458C>G (p.Ser153Cys)	SUPT7L (S18C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2465265	NM_014860.3(SUPT7L):c.389G>A (p.Arg130Gln)	SUPT7L (R128Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3172192	NM_014860.3(SUPT7L):c.355G>A (p.Asp119Asn)	SUPT7L (D119N +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2515219	NM_014860.3(SUPT7L):c.230G>A (p.Arg77His)	SUPT7L (R75H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2253552	NM_014860.3(SUPT7L):c.193C>T (p.His65Tyr)	SUPT7L (H63Y +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3172194	NM_014860.3(SUPT7L):c.76C>A (p.Pro26Thr)	SUPT7L (P24T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3172193	NM_014860.3(SUPT7L):c.47A>C (p.Gln16Pro)	SUPT7L (Q16P +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3148883	GRCh37/hg19 2p25.3-22.3(chr2:12771-35541353)x3	ABHD1, ACP1 +182 more	Copy number gain	See cases	GPathogenic
Select item 2427541	NC_000002.11:g.(?_24443763)_(29022169_?)dup	ABHD1, ADCY3 +65 more	Duplication	not provided	GUncertain significance
Select item 2425074	NC_000002.11:g.(?_24443763)_(30143525_?)dup	ADGRF3, AGBL5 +72 more	Duplication	not provided	GUncertain significance
Select item 1808629	GRCh37/hg19 2p25.3-22.3(chr2:706460-35523639)x3	ABHD1, ADAM17 +177 more	Copy number gain	not provided	GPathogenic
Select item 1708190	GRCh37/hg19 2p25.1-q13(chr2:11504318-111365996)x1	ACTG2, ACTR1B +529 more	Copy number loss	See cases	GPathogenic
Select item 1703543	GRCh37/hg19 2p25.3-q37.3(chr2:1-243199373)	ABCA12, ABCB11 +1216 more	Copy number gain	Mosaic trisomy 2	GPathogenic
Select item 1220534	GRCh37/hg19 2p23.3-21(chr2:24601818-43466284)x3	OTOF, OXER1 +131 more	Copy number gain	See cases	GPathogenic
Select item 1176757	GRCh37/hg19 2p23.3-21(chr2:24881528-43460021)x3	DNAJC27, DNAJC5G +131 more	Copy number gain	not provided	GLikely pathogenic
Select item 442998	GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)	RGPD4, RGPD5 +1214 more	Copy number gain	See cases	GPathogenic
Select item 442997	GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)x3	IL1F10, IL1R1 +1214 more	Copy number gain	See cases	GPathogenic
Select item 402127	GRCh37/hg19 2p23.3-16.1(chr2:27861707-60790985)x3	ABCG5, ABCG8 +139 more	Copy number gain	See cases	GPathogenic

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Items: 44