ClinVar for Gene (Select 11321) - ClinVar

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Links from Gene

Items: 43

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3282175	NM_007266.4(GPN1):c.846C>G (p.Asn282Lys)	GPN1 (N187K +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3282174	NM_007266.4(GPN1):c.488C>T (p.Pro163Leu)	GPN1 (P151L +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3282173	NM_007266.4(GPN1):c.662G>A (p.Ser221Asn)	GPN1 (S209N +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3263812	NM_024584.5(CCDC121):c.-119+496G>A	CCDC121, GPN1 (V104I)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GLikely benign
Select item 3263810	NM_024584.5(CCDC121):c.-119+287C>T	CCDC121, GPN1 (A34V)	Single nucleotide variant (5 prime UTR variant +2 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 3138305	NM_024584.5(CCDC121):c.-119+257G>A	CCDC121, GPN1 (R24K)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 3138300	NM_024584.5(CCDC121):c.-119+385C>G	CCDC121, GPN1 (P67A)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 3138298	NM_024584.5(CCDC121):c.-119+292C>G	CCDC121, GPN1 (R36G)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 3101345	NM_007266.4(GPN1):c.50G>T (p.Arg17Leu)	GPN1, LOC129933386 (R17L)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3101344	NM_007266.4(GPN1):c.674G>A (p.Arg225His)	GPN1 (R130H +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3101343	NM_007266.3(GPN1):c.26G>A (p.Gly9Asp)	GPN1, LOC129933386 (G9D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2615993	NM_007266.4(GPN1):c.23C>T (p.Ala8Val)	GPN1, LOC129933386 (A8V)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
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 2535045	NM_007266.4(GPN1):c.841G>A (p.Ala281Thr)	GPN1 (A202T +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2492048	NM_007266.4(GPN1):c.212G>A (p.Arg71His)	GPN1 (R71H +1 more)	Single nucleotide variant (missense variant +2 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 2473484	NM_007266.4(GPN1):c.118A>G (p.Thr40Ala)	GPN1 (T28A +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
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 2378226	NM_024584.5(CCDC121):c.-119+337C>A	CCDC121, GPN1 (P51T)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2354206	NM_007266.4(GPN1):c.787G>A (p.Glu263Lys)	GPN1 (E168K +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2328145	NM_024584.5(CCDC121):c.-119+463C>G	CCDC121, GPN1 (Q93E)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2320863	NM_007266.4(GPN1):c.680T>A (p.Met227Lys)	GPN1 (M132K +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2317729	NM_024584.5(CCDC121):c.-119+424C>G	CCDC121, GPN1 (L80V)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2304974	NM_007266.4(GPN1):c.896T>G (p.Met299Arg)	GPN1 (M287R +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2304438	NM_007266.4(GPN1):c.197C>T (p.Ala66Val)	GPN1 (P7S +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2297904	NM_024584.5(CCDC121):c.-119+421G>A	CCDC121, GPN1 (E79K)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GLikely benign
Select item 2208859	NM_024584.5(CCDC121):c.-119+323A>C	CCDC121, GPN1 (Q46P)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GLikely benign
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
Select item 155615	GRCh38/hg38 2p25.3-21(chr2:236816-45983232)x3	LINC01115, LINC01121 +1400 more	Copy number gain	See cases	GPathogenic
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 153441	GRCh38/hg38 2p25.3-22.3(chr2:12770-33711509)x3	LOC126806103, LOC126806104 +1047 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 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

ClinVar

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Links from Gene

Items: 43