8111[HGNC] - ClinVar

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Items: 49

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 153520	GRCh38/hg38 2p25.3-23.3(chr2:12770-25039694)x3	LOC129933244, LOC129933245 +653 more	Copy number gain	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 152693	GRCh38/hg38 2p25.3-24.1(chr2:17019-20001056)x3	ACP1, ADAM17 +498 more	Copy number gain	See cases	GPathogenic
Select item 148269	GRCh38/hg38 2p25.3-23.3(chr2:17019-26318846)x3	LOC129933186, LOC129933187 +736 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 148848	GRCh38/hg38 2p25.3-24.1(chr2:1664615-23664142)x3	ADAM17, ADI1 +546 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 150627	GRCh38/hg38 2p24.2-24.1(chr2:16723596-21600734)x1	APOB, APOB-ICR +131 more	Copy number loss	See cases	GPathogenic
Select item 155299	GRCh38/hg38 2p24.2-24.1(chr2:18439073-19428650)x1	LINC01376, LOC121725080 +21 more	Copy number loss	See cases	GUncertain significance
Select item 2374395	NM_145260.3(OSR1):c.752C>T (p.Thr251Met)	OSR1 (T251M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 765138	NM_145260.3(OSR1):c.666-6C>T	OSR1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1231818	NM_145260.3(OSR1):c.666-218A>G	OSR1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1227593	NM_145260.3(OSR1):c.654G>A (p.Leu218=)	OSR1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2403170	NM_145260.3(OSR1):c.569T>G (p.Leu190Arg)	OSR1 (L190R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2463304	NM_145260.3(OSR1):c.457G>A (p.Val153Met)	OSR1 (V153M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2650699	NM_145260.3(OSR1):c.456C>T (p.Asp152=)	OSR1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2598503	NM_145260.3(OSR1):c.446C>A (p.Ala149Asp)	OSR1 (A149D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 756472	NM_145260.3(OSR1):c.429T>C (p.Pro143=)	OSR1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2611234	NM_145260.3(OSR1):c.425C>T (p.Ser142Phe)	OSR1 (S142F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 758618	NM_145260.3(OSR1):c.417C>T (p.Gly139=)	OSR1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 723969	NM_145260.3(OSR1):c.345G>T (p.Pro115=)	OSR1	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 3303619	NM_145260.3(OSR1):c.321C>A (p.Ser107Arg)	OSR1 (S107R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2226104	NM_145260.3(OSR1):c.286A>C (p.Ile96Leu)	OSR1 (I96L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2251027	NM_145260.3(OSR1):c.263C>A (p.Ala88Asp)	OSR1 (A88D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2477068	NM_145260.3(OSR1):c.209C>T (p.Ser70Phe)	OSR1 (S70F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2269760	NM_145260.3(OSR1):c.181G>A (p.Ala61Thr)	OSR1 (A61T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3207189	NM_145260.3(OSR1):c.167C>T (p.Thr56Met)	OSR1 (T56M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2278428	NM_145260.3(OSR1):c.127G>A (p.Gly43Ser)	OSR1 (G43S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2496090	NM_145260.3(OSR1):c.101C>T (p.Pro34Leu)	OSR1 (P34L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2548798	NM_145260.3(OSR1):c.94A>G (p.Thr32Ala)	OSR1 (T32A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3207191	NM_145260.3(OSR1):c.74A>C (p.Gln25Pro)	OSR1 (Q25P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3207190	NM_145260.3(OSR1):c.37C>T (p.His13Tyr)	OSR1 (H13Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3303620	NM_145260.3(OSR1):c.29T>C (p.Val10Ala)	OSR1 (V10A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2595080	NM_145260.3(OSR1):c.4G>A (p.Gly2Ser)	OSR1 (G2S)	Single nucleotide variant (missense variant)	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 3062591	GRCh37/hg19 2p25.2-24.1(chr2:6375088-23538518)x3	APOB, ASAP2 +59 more	Copy number gain	not specified	GPathogenic
Select item 2685850	GRCh37/hg19 2p24.2-24.1(chr2:18902496-19579654)x3	OSR1	Copy number gain	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 1180531	GRCh37/hg19 2p24.3-24.1(chr2:15640273-19609496)x1	CYRIA, DDX1 +13 more	Copy number loss	not provided	GPathogenic
Select item 979978	GRCh37/hg19 2p24.1(chr2:19368077-19743086)x3	OSR1	Copy number gain	not provided	GUncertain significance
Select item 687179	GRCh37/hg19 2p24.3-24.1(chr2:15631145-21729493)x1	APOB, CYRIA +25 more	Copy number loss	not provided	GPathogenic
Select item 562618	GRCh37/hg19 2p24.1(chr2:19375553-20285159)x3	WDR35, MATN3 +3 more	Copy number gain	not provided	GUncertain significance
Select item 443675	GRCh37/hg19 2p25.3-24.1(chr2:12770-20081474)x3	ACP1, ADAM17 +65 more	Copy number gain	See cases	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

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Items: 49