GPATCH11[gene] - ClinVar

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Items: 41

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59133	GRCh38/hg38 2p25.3-16.1(chr2:66097-55570637)x3	ABCG5, ABCG8 +1631 more	Copy number gain	See cases	GPathogenic
Select item 155615	GRCh38/hg38 2p25.3-21(chr2:236816-45983232)x3	ABCG5, ABCG8 +1400 more	Copy number gain	See cases	GPathogenic
Select item 152995	GRCh38/hg38 2p25.1-11.2(chr2:7495123-87705899)x3	LOC126806252, LOC126806253 +2457 more	Copy number gain	See cases	GBenign
Select item 57240	GRCh38/hg38 2p22.2-22.1(chr2:36809304-38309455)x3	ATL2, CDC42EP3 +66 more	Copy number gain	See cases	GUncertain significance
Select item 150617	GRCh38/hg38 2p22.2-21(chr2:37000557-41954686)x1	ARHGEF33, ATL2 +154 more	Copy number loss	See cases	GPathogenic
Select item 3101154	NM_174931.4(GPATCH11):c.30C>G (p.Asp10Glu)	GPATCH11 (D10E)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 3101161	NM_174931.4(GPATCH11):c.73C>G (p.Pro25Ala)	GPATCH11 (P25A)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2306275	NM_174931.4(GPATCH11):c.155A>G (p.Gln52Arg)	GPATCH11 (Q52R)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2350914	NM_174931.4(GPATCH11):c.172G>A (p.Glu58Lys)	GPATCH11 (E58K)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2330345	NM_174931.4(GPATCH11):c.182A>C (p.Glu61Ala)	GPATCH11 (E61A)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3062155	NM_174931.4(GPATCH11):c.328+1G>T	GPATCH11 (G110V)	Single nucleotide variant (missense variant +2 more)	Early onset and severe retinal dystrophy with neurological impairment and facial dysmorphia	GPathogenic
Select item 2269478	NM_174931.4(GPATCH11):c.390C>G (p.Ser130Arg)	GPATCH11 (S116R +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3062158	NM_174931.4(GPATCH11):c.393C>G (p.Tyr131Ter)	GPATCH11 (Y117* +3 more)	Single nucleotide variant (nonsense +1 more)	Early onset and severe retinal dystrophy with neurological impairment and facial dysmorphia	GPathogenic
Select item 2270197	NM_174931.4(GPATCH11):c.424G>A (p.Glu142Lys)	GPATCH11 (E142K +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2400097	NM_174931.4(GPATCH11):c.436G>T (p.Ala146Ser)	GPATCH11 (A145S +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3101155	NM_174931.4(GPATCH11):c.447T>A (p.Phe149Leu)	GPATCH11 (F148L +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3062157	NM_174931.4(GPATCH11):c.449+1G>C	GPATCH11	Single nucleotide variant (splice donor variant)	Early onset and severe retinal dystrophy with neurological impairment and facial dysmorphia	GPathogenic
Select item 3062156	NM_174931.4(GPATCH11):c.454C>T (p.Arg152Ter)	GPATCH11 (R138* +4 more)	Single nucleotide variant (nonsense +1 more)	Early onset and severe retinal dystrophy with neurological impairment and facial dysmorphia	GPathogenic
Select item 3101156	NM_174931.4(GPATCH11):c.455G>A (p.Arg152Gln)	GPATCH11 (R138Q +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2523449	NM_174931.4(GPATCH11):c.478A>C (p.Met160Leu)	GPATCH11 (M159L +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3101157	NM_174931.4(GPATCH11):c.484C>G (p.Leu162Val)	GPATCH11 (L162V +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3101158	NM_174931.4(GPATCH11):c.530A>G (p.Asp177Gly)	GPATCH11 (D163G +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3101159	NM_174931.4(GPATCH11):c.605A>C (p.Glu202Ala)	GPATCH11 (E188A +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2455078	NM_174931.4(GPATCH11):c.624T>A (p.Asp208Glu)	GPATCH11 (D101E +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3101160	NM_174931.4(GPATCH11):c.631G>A (p.Glu211Lys)	GPATCH11 (E104K +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3101162	NM_174931.4(GPATCH11):c.715T>C (p.Trp239Arg)	GPATCH11 (W236R +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3062647	GRCh37/hg19 2p23.1-21(chr2:30814984-42798684)x1	ARHGEF33, ATL2 +52 more	Copy number loss	not specified	GPathogenic
Select item 3062619	GRCh37/hg19 2p22.2(chr2:36971076-38294436)x3	CDC42EP3, CEBPZ +10 more	Copy number gain	not specified	GUncertain significance
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 1527803	GRCh37/hg19 2p23.2-21(chr2:29899368-42441440)	ALK, ARHGEF33 +52 more	Copy number loss	not specified	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	EML4, FAM98A +131 more	Copy number gain	not provided	GLikely pathogenic
Select item 979973	GRCh37/hg19 2p22.3-22.2(chr2:36432453-38182274)x3	CRIM1, SULT6B1 +12 more	Copy number gain	not provided	GUncertain significance
Select item 562680	GRCh37/hg19 2p22.3-16.1(chr2:34792916-56676541)x3	ABCG5, ABCG8 +100 more	Copy number gain	not provided	GPathogenic
Select item 547174	inv(2)(p21p23.2)	RASGRP3, HNRNPLL +52 more	Inversion	Endometrial carcinoma	GLikely pathogenic
Select item 487484	t(2;2)(p23;p21)(hg19 chr2:g.42552694::ochr2:g.29446394)	ALK, ARHGEF33 +52 more	Inversion	Small cell lung carcinoma	GPathogenic
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
Select item 394466	GRCh37/hg19 2p23.2-21(chr2:28069882-43543420)x3	ALK, ARHGEF33 +70 more	Copy number gain	See cases	GPathogenic

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Items: 41