ClinVar for Gene (Select 151525) - ClinVar

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Links from Gene

Items: 47

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3190434	NM_001128212.3(WDSUB1):c.790A>G (p.Ile264Val)	WDSUB1 (I264V +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3190433	NM_001128212.3(WDSUB1):c.287G>C (p.Ser96Thr)	WDSUB1 (S96T +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3190432	NM_001128212.3(WDSUB1):c.137C>T (p.Pro46Leu)	WDSUB1 (P46L)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3190431	NM_001128212.3(WDSUB1):c.1364C>T (p.Ala455Val)	WDSUB1 (A217V +6 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3190430	NM_001128212.3(WDSUB1):c.118C>A (p.Arg40Ser)	WDSUB1 (R40S)	Single nucleotide variant (missense variant +2 more)	not specified	GLikely benign
Select item 3190429	NM_001128212.3(WDSUB1):c.1108A>C (p.Ser370Arg)	WDSUB1 (S247R +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3190428	NM_001128212.3(WDSUB1):c.1067A>G (p.Asn356Ser)	WDSUB1 (N269S +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3190427	NM_001128212.3(WDSUB1):c.103C>T (p.Arg35Cys)	WDSUB1 (R35C)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3062503	GRCh37/hg19 2q24.1-24.3(chr2:157718631-165360287)x1	CCDC148, CD302 +29 more	Copy number loss	not specified	GPathogenic
Select item 2618935	NM_001128212.3(WDSUB1):c.275T>G (p.Met92Arg)	WDSUB1 (M92R +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2611380	NM_001128212.3(WDSUB1):c.304G>A (p.Val102Ile)	WDSUB1 (V102I +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2594533	NM_001128212.3(WDSUB1):c.1403A>G (p.Asn468Ser)	WDSUB1 (N299S +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2557901	NM_001128212.3(WDSUB1):c.451G>A (p.Gly151Arg)	WDSUB1 (G151R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2528868	NM_001128212.3(WDSUB1):c.1259C>T (p.Pro420Leu)	WDSUB1 (P182L +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2505361	GRCh37/hg19 2q24.2(chr2:159844069-161073462)	BAZ2B, CD302 +7 more	Copy number loss	BAZ2B-related disorder	GPathogenic
Select item 2477250	NM_001128212.3(WDSUB1):c.1420C>T (p.His474Tyr)	WDSUB1 (H305Y +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2476531	NM_001128212.3(WDSUB1):c.1082A>G (p.Lys361Arg)	WDSUB1 (K274R +5 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2465421	NM_001128212.3(WDSUB1):c.329C>T (p.Thr110Met)	WDSUB1 (T110M +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2406121	NM_001128212.3(WDSUB1):c.692A>G (p.Tyr231Cys)	WDSUB1 (Y144C +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2403714	NM_001128212.3(WDSUB1):c.22T>G (p.Leu8Val)	WDSUB1 (L8V)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2399203	NM_001128212.3(WDSUB1):c.956G>C (p.Arg319Thr)	WDSUB1 (R150T +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2386834	NM_001128212.3(WDSUB1):c.41A>G (p.Asp14Gly)	WDSUB1 (D14G)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2335794	NM_001128212.3(WDSUB1):c.760C>G (p.Leu254Val)	WDSUB1 (L167V +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2332476	NM_001128212.3(WDSUB1):c.913G>A (p.Val305Met)	WDSUB1 (V67M +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2328871	NM_001128212.3(WDSUB1):c.1219G>A (p.Glu407Lys)	WDSUB1 (E407K +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2304646	NM_001128212.3(WDSUB1):c.200A>T (p.His67Leu)	WDSUB1 (H67L)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2300656	NM_001128212.3(WDSUB1):c.1382G>C (p.Arg461Thr)	WDSUB1 (R338T +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1809406	GRCh37/hg19 2q24.1-24.2(chr2:159214954-160334904)x3	BAZ2B, CCDC148 +4 more	Copy number gain	not provided	GUncertain significance
Select item 1808136	GRCh37/hg19 2q24.2(chr2:160093668-160259258)x3	BAZ2B, WDSUB1	Copy number gain	not provided	GUncertain significance
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 1526924	GRCh37/hg19 2q24.1-24.3(chr2:158950827-164456735)	BAZ2B, CCDC148 +22 more	Copy number loss	not specified	GPathogenic
Select item 932937	GRCh37/hg19 2q24.2-24.3(chr2:160075929-164666149)	BAZ2B, CD302 +19 more	Copy number loss	Severe global developmental delay +1 more	GLikely pathogenic
Select item 814334	GRCh37/hg19 2q24.1-24.2(chr2:158925958-162489191)x1	RBMS1, SLC4A10 +16 more	Copy number loss	not provided	GPathogenic
Select item 800360	GRCh37/hg19 2q24.2(chr2:160124451-160219840)x1	WDSUB1, BAZ2B +1 more	Copy number loss	Neurodevelopmental disorder	GPathogenic
Select item 800359	GRCh37/hg19 2q24.2(chr2:160124451-160511552)x1	WDSUB1, TANC1 +1 more	Copy number loss	Neurodevelopmental disorder	GPathogenic
Select item 523686	Single allele	BAZ2B, CD302 +19 more	Deletion	Severe global developmental delay +1 more	GLikely pathogenic
Select item 523163	GRCh37/hg19 2q12.1-24.3(chr2:104172062-168223828)x1	CCDC74B, CCDC93 +218 more	Copy number loss	Poly (ADP-Ribose) polymerase inhibitor response	Gdrug response
Select item 443473	GRCh37/hg19 2q24.1-24.3(chr2:157970774-169270675)x1	ACVR1, ACVR1C +42 more	Copy number loss	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
Select item 253638	GRCh37/hg19 2q24.1-31.3(chr2:156489430-182921298)x3	ABCB11, ACVR1 +129 more	Copy number gain	See cases	GPathogenic
Select item 154597	GRCh38/hg38 2q23.3-24.2(chr2:151932344-159419734)x1	ACVR1, ACVR1C +147 more	Copy number loss	See cases	GPathogenic
Select item 154177	GRCh38/hg38 2q24.1-31.1(chr2:154294042-175989372)x3	LOC129935011, LOC129935012 +530 more	Copy number gain	See cases	GPathogenic
Select item 152747	GRCh38/hg38 2q24.1-24.2(chr2:158655460-159251819)x3	DAPL1, LOC110121120 +24 more	Copy number gain	See cases	GLikely benign
Select item 60219	GRCh38/hg38 2q23.1-24.3(chr2:148917286-163204623)x1	ACVR1, ACVR1C +333 more	Copy number loss	See cases	GPathogenic
Select item 59150	GRCh38/hg38 2q24.1-24.3(chr2:154366788-167048902)x3	ACVR1, ACVR1C +275 more	Copy number gain	See cases	GPathogenic
Select item 57318	GRCh38/hg38 2q24.1-24.3(chr2:158382388-166605758)x1	BAZ2B, BAZ2B-AS1 +197 more	Copy number loss	See cases	GPathogenic

ClinVar

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Links from Gene

Items: 47