ClinVar for Gene (Select 219469) - ClinVar

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Links from Gene

Items: 41

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3303431	NM_001005199.2(OR8H1):c.589A>T (p.Met197Leu)	OR8H1 (M197L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3303430	NM_001005199.2(OR8H1):c.247G>A (p.Ala83Thr)	OR8H1 (A83T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3206762	NM_001005199.2(OR8H1):c.94C>A (p.Leu32Ile)	OR8H1 (L32I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3206761	NM_001005199.2(OR8H1):c.772T>G (p.Tyr258Asp)	OR8H1 (Y258D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3206759	NM_001005199.2(OR8H1):c.646T>A (p.Ser216Thr)	OR8H1 (S216T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3206758	NM_001005199.2(OR8H1):c.404T>C (p.Met135Thr)	OR8H1 (M135T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3206757	NM_001005199.2(OR8H1):c.254T>C (p.Leu85Ser)	OR8H1 (L85S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3206756	NM_001005199.2(OR8H1):c.248C>A (p.Ala83Glu)	OR8H1 (A83E)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3206755	NM_001005199.2(OR8H1):c.229A>G (p.Ile77Val)	OR8H1 (I77V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3206754	NM_001005199.2(OR8H1):c.149G>T (p.Arg50Leu)	OR8H1 (R50L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3206753	NM_001005199.2(OR8H1):c.117G>T (p.Met39Ile)	OR8H1 (M39I)	Single nucleotide variant (missense variant)	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 2623661	NM_001005199.2(OR8H1):c.269A>G (p.Tyr90Cys)	OR8H1 (Y90C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2610317	NM_001005199.2(OR8H1):c.196T>G (p.Leu66Val)	OR8H1 (L66V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2531859	NM_001005199.2(OR8H1):c.566T>G (p.Met189Arg)	OR8H1 (M189R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2524111	NM_001005199.2(OR8H1):c.266A>G (p.Asn89Ser)	OR8H1 (N89S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2512976	NM_001005199.2(OR8H1):c.68T>G (p.Val23Gly)	OR8H1 (V23G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2410982	NM_001005199.2(OR8H1):c.271A>G (p.Ile91Val)	OR8H1 (I91V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2401395	NM_001005199.2(OR8H1):c.136A>C (p.Ile46Leu)	OR8H1 (I46L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2357666	NM_001005199.2(OR8H1):c.818C>T (p.Ala273Val)	OR8H1 (A273V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2325659	NM_001005199.2(OR8H1):c.375C>G (p.Ile125Met)	OR8H1 (I125M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2307170	NM_001005199.2(OR8H1):c.10A>G (p.Arg4Gly)	OR8H1 (R4G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2292245	NM_001005199.2(OR8H1):c.377G>T (p.Cys126Phe)	OR8H1 (C126F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2288584	NM_001005199.2(OR8H1):c.203T>G (p.Phe68Cys)	OR8H1 (F68C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2266820	NM_001005199.2(OR8H1):c.14A>G (p.Asn5Ser)	OR8H1 (N5S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2261453	NM_001005199.2(OR8H1):c.20C>T (p.Thr7Ile)	OR8H1 (T7I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2246817	NM_001005199.2(OR8H1):c.492A>C (p.Arg164Ser)	OR8H1 (R164S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2226448	NM_001005199.2(OR8H1):c.497A>G (p.His166Arg)	OR8H1 (H166R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 1340449	GRCh37/hg19 11p11.12-q12.1(chr11:51164494-56879839)x3	OR10AG1, OR4A15 +47 more	Copy number gain	not provided	GUncertain significance
Select item 997825	Single allele	MMP13, MMP20 +904 more	Deletion	Intellectual disability	GPathogenic
Select item 684481	Single allele	APLNR, BTBD18 +67 more	Duplication	not provided	Gnot provided
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 442071	GRCh37/hg19 11p11.12-q12.1(chr11:51183548-56977098)x3	LRRC55, OR10AG1 +48 more	Copy number gain	See cases	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
Select item 154690	GRCh38/hg38 11q11-12.1(chr11:55319519-58998777)x3	APLNR, BTBD18 +147 more	Copy number gain	See cases	GPathogenic
Select item 152667	GRCh38/hg38 11q11-12.1(chr11:55316535-57539457)x3	APLNR, LINC02735 +86 more	Copy number gain	See cases	GUncertain significance
Select item 145380	GRCh38/hg38 11q12.1(chr11:56149822-56770518)x3	LOC126861207, MIR6128 +23 more	Copy number gain	See cases	GBenign
Select item 57245	GRCh38/hg38 11q11-12.1(chr11:55445689-57114783)x1	LINC02735, LOC126861207 +50 more	Copy number loss	See cases	GBenign

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Links from Gene

Items: 41