ClinVar for Gene (Select 56834) - ClinVar

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Links from Gene

Items: 34

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3244550	NC_000011.9:g.(?_63731700)_(64572142_?)del	BAD, CATSPERZ +28 more	Deletion	Multiple endocrine neoplasia, type 1	GPathogenic
Select item 3132795	NM_032989.3(BAD):c.94T>G (p.Ser32Ala)	BAD, GPR137 (S32A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3101414	NM_001170880.2(GPR137):c.653C>T (p.Ala218Val)	GPR137 (A218V +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3101413	NM_001170880.2(GPR137):c.257G>C (p.Arg86Pro)	GPR137 (R86P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3063215	GRCh37/hg19 11q12.1-13.3(chr11:56895955-69295402)x3	ACTN3, ACY3 +343 more	Copy number gain	not specified	GLikely pathogenic
Select item 2685408	GRCh37/hg19 11q13.1(chr11:63643711-64533636)x1	BAD, CATSPERZ +29 more	Copy number loss	not provided	GUncertain significance
Select item 2684646	GRCh37/hg19 11q12.2-13.5(chr11:59923608-76272324)x3	FOLR2, RAB3IL1 +362 more	Copy number gain	not provided	GPathogenic
Select item 2610480	NM_001170880.2(GPR137):c.970C>T (p.Arg324Trp)	GPR137 (R324W +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2492848	NM_001170880.2(GPR137):c.1187C>T (p.Thr396Met)	GPR137 (R311C +4 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2492154	NM_032989.3(BAD):c.193G>A (p.Gly65Arg)	BAD, GPR137 (G65R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2491615	NM_001170880.2(GPR137):c.485A>C (p.His162Pro)	GPR137 (H162P)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2481755	NM_032989.3(BAD):c.236G>T (p.Gly79Val)	BAD, GPR137 (G79V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2459152	NM_032989.3(BAD):c.246C>G (p.Asp82Glu)	BAD, GPR137 (D82E)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2458246	NM_001170880.2(GPR137):c.740G>A (p.Arg247Gln)	GPR137 (R247Q +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2425028	NC_000011.9:g.(?_58916346)_(64972349_?)dup	AHNAK, ARL2 +182 more	Duplication	Leukocyte adhesion deficiency 3	GUncertain significance
Select item 2393320	NM_001170880.2(GPR137):c.397A>G (p.Ser133Gly)	GPR137 (S133G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2381722	NM_001378076.1(GPR137):c.-15-2119T>C	BAD, GPR137	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2370561	NM_001170880.2(GPR137):c.463G>A (p.Val155Met)	GPR137 (V155M)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2355819	NM_001170880.2(GPR137):c.*75C>T	GPR137 (P337L +1 more)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GLikely benign
Select item 2351850	NM_001170880.2(GPR137):c.386G>A (p.Arg129Gln)	GPR137 (R129Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2339129	NM_032989.3(BAD):c.146G>A (p.Ser49Asn)	GPR137, BAD (S49N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2337374	NM_032989.3(BAD):c.97G>A (p.Gly33Ser)	BAD, GPR137 (G33S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2295301	NM_001170880.2(GPR137):c.919A>G (p.Ser307Gly)	GPR137 (S255G +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2294852	NM_001170880.2(GPR137):c.1188G>A (p.Thr396=)	GPR137 (R311H +1 more)	Single nucleotide variant (synonymous variant +3 more)	not specified	GUncertain significance
Select item 2233535	NM_032989.3(BAD):c.244G>A (p.Asp82Asn)	BAD, GPR137 (D82N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2228777	NM_001170880.2(GPR137):c.724T>A (p.Leu242Met)	GPR137 (L242M +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2221590	NM_001170880.2(GPR137):c.*84C>T	GPR137 (A390V +1 more)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2221407	NM_001170880.2(GPR137):c.*54C>T	GPR137 (P330L +1 more)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 1704646	GRCh37/hg19 11p13-q25(chr11:32799481-134938470)x3	MAML2, MAP3K11 +955 more	Copy number gain	MISSED ABORTION	GPathogenic
Select item 997825	Single allele	MMP13, MMP20 +904 more	Deletion	Intellectual disability	GPathogenic
Select item 634998	dup(11)(q13.1q13.1)	ATG2A, BAD +74 more	Duplication	Ependymoma	GLikely pathogenic
Select item 441904	GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)	AAMDC, AASDHPPT +1289 more	Copy number gain	See cases	GPathogenic
Select item 441903	GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)x3	SLC37A4, SNORD26 +1289 more	Copy number gain	See cases	GPathogenic
Select item 152302	GRCh38/hg38 11q12.3-13.1(chr11:62893226-64335043)x1	ATL3, BAD +107 more	Copy number loss	See cases	GLikely pathogenic

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Links from Gene

Items: 34