ClinVar for Gene (Select 151449) - ClinVar

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Links from Gene

Items: 49

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 3099267	NM_182828.4(GDF7):c.956G>T (p.Arg319Leu)	GDF7 (R319L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3099266	NM_182828.4(GDF7):c.680C>G (p.Pro227Arg)	GDF7 (P227R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3099265	NM_182828.4(GDF7):c.643G>A (p.Asp215Asn)	GDF7 (D215N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3099264	NM_182828.4(GDF7):c.382G>A (p.Ala128Thr)	GDF7 (A128T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3099263	NM_182828.4(GDF7):c.206G>A (p.Arg69Gln)	GDF7 (R69Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3099262	NM_182828.4(GDF7):c.1291G>A (p.Ala431Thr)	GDF7 (A431T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3099261	NM_182828.4(GDF7):c.124G>A (p.Gly42Ser)	GDF7 (G42S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3099260	NM_182828.4(GDF7):c.1207A>T (p.Asn403Tyr)	GDF7 (N403Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3099259	NM_182828.4(GDF7):c.1163C>G (p.Ser388Trp)	GDF7 (S388W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 2650707	NM_182828.4(GDF7):c.304A>G (p.Arg102Gly)	GDF7 (R102G)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2615792	NM_182828.4(GDF7):c.649A>G (p.Met217Val)	GDF7 (M217V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2599808	NM_182828.4(GDF7):c.233G>T (p.Gly78Val)	GDF7 (G78V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2594967	NM_182828.4(GDF7):c.743G>A (p.Arg248Gln)	GDF7 (R248Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2554331	NM_182828.4(GDF7):c.916G>A (p.Gly306Ser)	GDF7 (G306S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2536110	NM_182828.4(GDF7):c.917G>C (p.Gly306Ala)	GDF7 (G306A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2532780	NM_182828.4(GDF7):c.883C>G (p.Leu295Val)	GDF7 (L295V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2514320	NM_182828.4(GDF7):c.719C>G (p.Pro240Arg)	GDF7 (P240R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2344578	NM_182828.4(GDF7):c.1090G>C (p.Asp364His)	GDF7 (D364H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2341884	NM_182828.4(GDF7):c.22G>A (p.Ala8Thr)	GDF7 (A8T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2319314	NM_182828.4(GDF7):c.587A>C (p.Tyr196Ser)	GDF7 (Y196S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2314401	NM_182828.4(GDF7):c.193G>A (p.Ala65Thr)	GDF7 (A65T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2305503	NM_182828.4(GDF7):c.892G>A (p.Glu298Lys)	GDF7 (E298K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2273716	NM_182828.4(GDF7):c.854G>C (p.Arg285Pro)	GDF7 (R285P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2271805	NM_182828.4(GDF7):c.790G>C (p.Glu264Gln)	GDF7 (E264Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2254972	NM_182828.4(GDF7):c.973G>T (p.Ala325Ser)	GDF7 (A325S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2242897	NM_182828.4(GDF7):c.779C>T (p.Ser260Phe)	GDF7 (S260F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2236109	NM_182828.4(GDF7):c.511C>T (p.Pro171Ser)	GDF7 (P171S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2230465	NM_182828.4(GDF7):c.796G>A (p.Ala266Thr)	GDF7 (A266T)	Single nucleotide variant (missense variant)	not specified	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 714108	NM_182828.4(GDF7):c.856G>A (p.Ala286Thr)	GDF7 (A286T)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 708453	NM_182828.4(GDF7):c.1110G>T (p.Pro370=)	GDF7	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 708452	NM_182828.4(GDF7):c.946G>A (p.Gly316Ser)	GDF7 (G316S)	Single nucleotide variant (missense variant)	not provided	GBenign
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 562668	GRCh37/hg19 2p24.1-23.3(chr2:19905995-24762790)x1	APOB, ATAD2B +22 more	Copy number loss	not provided	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 155615	GRCh38/hg38 2p25.3-21(chr2:236816-45983232)x3	ABCG5, ABCG8 +1400 more	Copy number gain	See cases	GPathogenic
Select item 153520	GRCh38/hg38 2p25.3-23.3(chr2:12770-25039694)x3	ATAD2B, ATP6V1C2 +653 more	Copy number gain	See cases	GPathogenic
Select item 153441	GRCh38/hg38 2p25.3-22.3(chr2:12770-33711509)x3	ABHD1, ACP1 +1047 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 150627	GRCh38/hg38 2p24.2-24.1(chr2:16723596-21600734)x1	APOB, APOB-ICR +131 more	Copy number loss	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 148269	GRCh38/hg38 2p25.3-23.3(chr2:17019-26318846)x3	LOC129933312, LOC129933313 +736 more	Copy number gain	See cases	GPathogenic
Select item 146072	GRCh38/hg38 2p25.3-23.2(chr2:30341-28419664)x3	C2orf48, C2orf50 +893 more	Copy number gain	See cases	GPathogenic
Select item 59133	GRCh38/hg38 2p25.3-16.1(chr2:66097-55570637)x3	ABCG5, ABCG8 +1631 more	Copy number gain	See cases	GPathogenic

ClinVar

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Links from Gene

Items: 49