ClinVar for Gene (Select 26538) - ClinVar

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Links from Gene

Items: 50

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3204558	NM_013939.2(OR10H2):c.863C>T (p.Pro288Leu)	OR10H2 (P288L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3204556	NM_013939.2(OR10H2):c.649C>A (p.Leu217Ile)	OR10H2 (L217I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3204555	NM_013939.2(OR10H2):c.598G>T (p.Val200Leu)	OR10H2 (V200L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3204554	NM_013939.2(OR10H2):c.598G>A (p.Val200Met)	OR10H2 (V200M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3204553	NM_013939.2(OR10H2):c.527A>T (p.His176Leu)	OR10H2 (H176L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3204552	NM_013939.2(OR10H2):c.520A>G (p.Ile174Val)	OR10H2 (I174V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3204551	NM_013939.2(OR10H2):c.37A>T (p.Ile13Phe)	OR10H2 (I13F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3204550	NM_013939.2(OR10H2):c.370G>T (p.Val124Leu)	OR10H2 (V124L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3204549	NM_013939.2(OR10H2):c.365G>A (p.Arg122His)	OR10H2 (R122H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3204548	NM_013939.2(OR10H2):c.278C>T (p.Ala93Val)	OR10H2 (A93V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3204547	NM_013939.2(OR10H2):c.277G>A (p.Ala93Thr)	OR10H2 (A93T)	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 2615892	NM_013939.2(OR10H2):c.659C>A (p.Ala220Asp)	OR10H2 (A220D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2589792	NM_013939.2(OR10H2):c.157C>T (p.Arg53Cys)	OR10H2 (R53C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2556504	NM_013939.2(OR10H2):c.178T>C (p.Tyr60His)	OR10H2 (Y60H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2548924	NM_013939.2(OR10H2):c.932A>G (p.Tyr311Cys)	OR10H2 (Y311C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2536583	NM_013939.2(OR10H2):c.562G>A (p.Ala188Thr)	OR10H2 (A188T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2510946	NM_013939.2(OR10H2):c.208G>C (p.Glu70Gln)	OR10H2 (E70Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2510856	NM_013939.2(OR10H2):c.7G>A (p.Gly3Arg)	OR10H2 (G3R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2499635	GRCh38/hg38 19p13.12-13.11(chr19:15014099-16261691)	LOC130063834, LOC130063835 +105 more	Copy number loss	Chromosome 19p13.13 deletion syndrome	GPathogenic
Select item 2487033	NM_013939.2(OR10H2):c.410G>A (p.Ser137Asn)	OR10H2 (S137N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2471373	NM_013939.2(OR10H2):c.703C>T (p.Arg235Trp)	OR10H2 (R235W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2457814	NM_013939.2(OR10H2):c.458C>T (p.Ser153Leu)	OR10H2 (S153L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2425869	NC_000019.9:g.(?_14847048)_(17394124_?)del	SLC1A6, RAB8A +57 more	Deletion	not provided	GUncertain significance
Select item 2405937	NM_013939.2(OR10H2):c.361G>A (p.Asp121Asn)	OR10H2 (D121N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2396053	NM_013939.2(OR10H2):c.415C>T (p.Arg139Trp)	OR10H2 (R139W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2393651	NM_013939.2(OR10H2):c.376A>G (p.Ile126Val)	OR10H2 (I126V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2391741	NM_013939.2(OR10H2):c.667G>A (p.Val223Met)	OR10H2 (V223M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2385565	NM_013939.2(OR10H2):c.272C>T (p.Ser91Phe)	OR10H2 (S91F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2373942	NM_013939.2(OR10H2):c.335C>T (p.Ser112Phe)	OR10H2 (S112F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2344480	NM_013939.2(OR10H2):c.406A>G (p.Met136Val)	OR10H2 (M136V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2333697	NM_013939.2(OR10H2):c.128T>C (p.Leu43Pro)	OR10H2 (L43P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2313053	NM_013939.2(OR10H2):c.43G>C (p.Val15Leu)	OR10H2 (V15L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2312219	NM_013939.2(OR10H2):c.845T>C (p.Leu282Pro)	OR10H2 (L282P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2297698	NM_013939.2(OR10H2):c.577G>A (p.Val193Ile)	OR10H2 (V193I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2288997	NM_013939.2(OR10H2):c.268C>T (p.Arg90Cys)	OR10H2 (R90C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2287627	NM_013939.2(OR10H2):c.568G>A (p.Gly190Arg)	OR10H2 (G190R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2247208	NM_013939.2(OR10H2):c.170C>T (p.Thr57Met)	OR10H2 (T57M)	Single nucleotide variant (missense variant)	not specified	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)	BICRA, BLOC1S3 +1364 more	Copy number gain	See cases	GPathogenic
Select item 443498	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)x3	A1BG, ABCA7 +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
Select item 147522	GRCh38/hg38 19p13.12-12(chr19:15133594-24193591)x3	ABHD8, AKAP8 +574 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 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

ClinVar

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Links from Gene

Items: 50