26532[Gene ID] - ClinVar

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Items: 36

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 144406	GRCh38/hg38 19p13.2-q13.31(chr19:11227942-44626354)x3	ABHD8, ACP5 +2135 more	Copy number gain	See cases	GPathogenic
Select item 59114	GRCh38/hg38 19p13.12-q11(chr19:13974677-27839676)x3	ABHD8, ADGRE2 +695 more	Copy number gain	See cases	GPathogenic
Select item 144765	GRCh38/hg38 19p13.12-13.11(chr19:14154962-16914313)x1	ADGRE2, ADGRE3 +237 more	Copy number loss	See cases	GPathogenic
Select item 2499635	GRCh38/hg38 19p13.12-13.11(chr19:15014099-16261691)	AKAP8, AKAP8L +105 more	Copy number loss	Chromosome 19p13.13 deletion syndrome	GPathogenic
Select item 147522	GRCh38/hg38 19p13.12-12(chr19:15133594-24193591)x3	ABHD8, AKAP8 +574 more	Copy number gain	See cases	GPathogenic
Select item 3204559	NM_013938.2(OR10H3):c.127A>C (p.Asn43His)	OR10H3 (N43H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2352967	NM_013938.2(OR10H3):c.160C>T (p.Arg54Cys)	OR10H3 (R54C)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2513784	NM_013938.2(OR10H3):c.227T>C (p.Val76Ala)	OR10H3 (V76A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3204560	NM_013938.2(OR10H3):c.236C>T (p.Thr79Ile)	OR10H3 (T79I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2488643	NM_013938.2(OR10H3):c.236C>A (p.Thr79Asn)	OR10H3 (T79N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3302412	NM_013938.2(OR10H3):c.265A>G (p.Thr89Ala)	OR10H3 (T89A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3204561	NM_013938.2(OR10H3):c.272G>A (p.Arg91His)	OR10H3 (R91H)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2279561	NM_013938.2(OR10H3):c.418C>T (p.Arg140Cys)	OR10H3 (R140C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2265554	NM_013938.2(OR10H3):c.419G>T (p.Arg140Leu)	OR10H3 (R140L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3204562	NM_013938.2(OR10H3):c.457G>A (p.Gly153Ser)	OR10H3 (G153S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3204563	NM_013938.2(OR10H3):c.461C>G (p.Ser154Trp)	OR10H3 (S154W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3302411	NM_013938.2(OR10H3):c.502A>G (p.Thr168Ala)	OR10H3 (T168A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2270803	NM_013938.2(OR10H3):c.547C>T (p.Leu183Phe)	OR10H3 (L183F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3204564	NM_013938.2(OR10H3):c.554T>C (p.Leu185Pro)	OR10H3 (L185P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3204565	NM_013938.2(OR10H3):c.566C>T (p.Ala189Val)	OR10H3 (A189V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2464265	NM_013938.2(OR10H3):c.575G>A (p.Ser192Asn)	OR10H3 (S192N)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2324384	NM_013938.2(OR10H3):c.595A>G (p.Met199Val)	OR10H3 (M199V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2332067	NM_013938.2(OR10H3):c.671T>C (p.Val224Ala)	OR10H3 (V224A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2379367	NM_013938.2(OR10H3):c.707G>A (p.Arg236Gln)	OR10H3 (R236Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3302410	NM_013938.2(OR10H3):c.851C>A (p.Thr284Asn)	OR10H3 (T284N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3204567	NM_013938.2(OR10H3):c.926G>A (p.Arg309Lys)	OR10H3 (R309K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3062393	GRCh37/hg19 19p13.13-13.11(chr19:13970692-18139376)x3	CYP4F8, DCAF15 +109 more	Copy number gain	not specified	GUncertain significance
Select item 2684887	GRCh37/hg19 19p13.12-13.11(chr19:14888106-17360864)x3	ADGRE2, AKAP8 +55 more	Copy number gain	not provided	GUncertain significance
Select item 2425869	NC_000019.9:g.(?_14847048)_(17394124_?)del	ADGRE2, AKAP8 +57 more	Deletion	not provided	GUncertain significance
Select item 1526656	GRCh37/hg19 19p13.12-13.11(chr19:14124666-16431349)	ADGRE2, ADGRE3 +55 more	Copy number loss	not specified	GPathogenic
Select item 980194	GRCh37/hg19 19p13.12-12(chr19:14286624-20956753)x3	BST2, NWD1 +158 more	Copy number gain	not provided	GPathogenic
Select item 816069	GRCh37/hg19 19p13.12(chr19:15759349-16018426)x1	OR10H1, CYP4F2 +6 more	Copy number loss	not provided	GLikely benign
Select item 688090	GRCh37/hg19 19p13.12-13.11(chr19:15623742-16301544)x1	CIB3, CYP4F11 +15 more	Copy number loss	not provided	GUncertain significance
Select item 443499	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)	PGLYRP1, PGLYRP2 +1364 more	Copy number gain	See cases	GPathogenic
Select item 443498	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)x3	TMC4, TMED1 +1364 more	Copy number gain	See cases	GPathogenic
Select item 442476	GRCh37/hg19 19p13.12-13.11(chr19:14883158-16788770)x1	ADGRE2, AKAP8 +45 more	Copy number loss	See cases	GPathogenic

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Items: 36