15302[HGNC] - ClinVar

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Items: 34

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 154690	GRCh38/hg38 11q11-12.1(chr11:55319519-58998777)x3	APLNR, BTBD18 +147 more	Copy number gain	See cases	GPathogenic
Select item 3206589	NM_001005186.2(OR6Q1):c.8C>T (p.Pro3Leu)	OR6Q1, OR9Q1 (P3L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2317500	NM_001005186.2(OR6Q1):c.49A>T (p.Met17Leu)	OR6Q1, OR9Q1 (M17L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2305813	NM_001005186.2(OR6Q1):c.106A>G (p.Met36Val)	OR6Q1, OR9Q1 (M36V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2239903	NM_001005186.2(OR6Q1):c.117C>A (p.Phe39Leu)	OR6Q1, OR9Q1 (F39L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2380138	NM_001005186.2(OR6Q1):c.172C>T (p.Arg58Trp)	OR6Q1, OR9Q1 (R58W)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2344001	NM_001005186.2(OR6Q1):c.173G>A (p.Arg58Gln)	OR6Q1, OR9Q1 (R58Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2217356	NM_001005186.2(OR6Q1):c.217A>G (p.Ile73Val)	OR6Q1, OR9Q1 (I73V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3303362	NM_001005186.2(OR6Q1):c.238G>A (p.Val80Met)	OR6Q1, OR9Q1 (V80M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2251026	NM_001005186.2(OR6Q1):c.257G>T (p.Gly86Val)	OR6Q1, OR9Q1 (G86V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3206583	NM_001005186.2(OR6Q1):c.268G>T (p.Val90Leu)	OR6Q1, OR9Q1 (V90L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3206584	NM_001005186.2(OR6Q1):c.337G>A (p.Ala113Thr)	OR6Q1, OR9Q1 (A113T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2374888	NM_001005186.2(OR6Q1):c.364A>G (p.Met122Val)	OR6Q1, OR9Q1 (M122V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3206585	NM_001005186.2(OR6Q1):c.520G>A (p.Gly174Ser)	OR6Q1, OR9Q1 (G174S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3206586	NM_001005186.2(OR6Q1):c.575C>T (p.Ser192Leu)	OR6Q1, OR9Q1 (S192L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2403959	NM_001005186.2(OR6Q1):c.676G>A (p.Val226Ile)	OR6Q1, OR9Q1 (V226I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3303363	NM_001005186.2(OR6Q1):c.691C>G (p.His231Asp)	OR6Q1, OR9Q1 (H231D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2591417	NM_001005186.2(OR6Q1):c.770G>T (p.Gly257Val)	OR6Q1, OR9Q1 (G257V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3303364	NM_001005186.2(OR6Q1):c.806C>T (p.Thr269Ile)	OR6Q1, OR9Q1 (T269I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3206588	NM_001005186.2(OR6Q1):c.819C>A (p.Asn273Lys)	OR6Q1, OR9Q1 (N273K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2384341	NM_001005186.2(OR6Q1):c.829G>A (p.Val277Met)	OR6Q1, OR9Q1 (V277M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2332355	NM_001005186.2(OR6Q1):c.853G>A (p.Val285Ile)	OR6Q1, OR9Q1 (V285I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2641801	NM_001005186.2(OR6Q1):c.915G>T (p.Leu305=)	OR6Q1, OR9Q1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2309559	NM_001005186.2(OR6Q1):c.946G>C (p.Gly316Arg)	OR6Q1, OR9Q1 (G316R)	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 3063212	GRCh37/hg19 11q12.1(chr11:57112299-57871866)x3	BTBD18, CLP1 +19 more	Copy number gain	not specified	GUncertain significance
Select item 3063189	GRCh37/hg19 11p11.12-q13.1(chr11:50398499-63924462)x3	AHNAK, APLNR +225 more	Copy number gain	not specified	GLikely pathogenic
Select item 1707422	GRCh37/hg19 11p11.2-q12.2(chr11:51581311-54891247)x3	ACP2, ACCS +216 more	Copy number gain	See cases	GPathogenic
Select item 1704646	GRCh37/hg19 11p13-q25(chr11:32799481-134938470)x3	MAML2, MAP3K11 +955 more	Copy number gain	MISSED ABORTION	GPathogenic
Select item 1339813	GRCh37/hg19 11q12.1(chr11:57112299-57871866)x3	BTBD18, CLP1 +19 more	Copy number gain	not provided	Gnot provided
Select item 997825	Single allele	MMP13, MMP20 +904 more	Deletion	Intellectual disability	GPathogenic
Select item 563881	GRCh37/hg19 11p11.12-q12.1(chr11:49313405-59008426)x3	APLNR, BTBD18 +95 more	Copy number gain	not provided	GUncertain significance
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

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Items: 34