ClinVar for Gene (Select 219484) - ClinVar

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Links from Gene

Items: 42

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3303244	NM_001005282.1(OR5M8):c.683G>T (p.Arg228Leu)	OR5M8 (R228L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3303243	NM_001005282.1(OR5M8):c.836C>T (p.Thr279Ile)	OR5M8 (T279I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3303242	NM_001005282.1(OR5M8):c.123C>A (p.Asn41Lys)	OR5M8 (N41K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3206365	NM_001005282.1(OR5M8):c.8G>A (p.Arg3Lys)	OR5M8 (R3K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3206364	NM_001005282.1(OR5M8):c.785C>A (p.Pro262His)	OR5M8 (P262H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3206363	NM_001005282.1(OR5M8):c.758C>A (p.Thr253Asn)	OR5M8 (T253N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3206362	NM_001005282.1(OR5M8):c.528C>G (p.Phe176Leu)	OR5M8 (F176L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3206361	NM_001005282.1(OR5M8):c.374T>A (p.Ile125Asn)	OR5M8 (I125N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3206360	NM_001005282.1(OR5M8):c.346G>C (p.Val116Leu)	OR5M8 (V116L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3206358	NM_001005282.1(OR5M8):c.197C>T (p.Ser66Phe)	OR5M8 (S66F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3206357	NM_001005282.1(OR5M8):c.154G>C (p.Ala52Pro)	OR5M8 (A52P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3206356	NM_001005282.1(OR5M8):c.112G>A (p.Val38Met)	OR5M8 (V38M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3206355	NM_001005282.1(OR5M8):c.103A>G (p.Met35Val)	OR5M8 (M35V)	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 2641788	NM_001005282.1(OR5M8):c.435G>A (p.Thr145=)	OR5M8	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2618867	NM_001005282.1(OR5M8):c.473A>G (p.Glu158Gly)	OR5M8 (E158G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2556965	NM_001005282.1(OR5M8):c.663C>G (p.Phe221Leu)	OR5M8 (F221L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2508974	NM_001005282.1(OR5M8):c.683G>A (p.Arg228His)	OR5M8 (R228H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2469098	NM_001005282.1(OR5M8):c.247A>G (p.Ile83Val)	OR5M8 (I83V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2467735	NM_001005282.1(OR5M8):c.670A>C (p.Ile224Leu)	OR5M8 (I224L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2459890	NM_001005282.1(OR5M8):c.130A>G (p.Met44Val)	OR5M8 (M44V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2456122	NM_001005282.1(OR5M8):c.536C>T (p.Ala179Val)	OR5M8 (A179V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2403389	NM_001005282.1(OR5M8):c.281C>T (p.Pro94Leu)	OR5M8 (P94L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2359598	NM_001005282.1(OR5M8):c.56G>A (p.Arg19His)	OR5M8 (R19H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2359324	NM_001005282.1(OR5M8):c.506G>T (p.Gly169Val)	OR5M8 (G169V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2356899	NM_001005282.1(OR5M8):c.895G>A (p.Ala299Thr)	OR5M8 (A299T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2344692	NM_001005282.1(OR5M8):c.16A>T (p.Thr6Ser)	OR5M8 (T6S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2331927	NM_001005282.1(OR5M8):c.686C>G (p.Ser229Cys)	OR5M8 (S229C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2292244	NM_001005282.1(OR5M8):c.694G>C (p.Gly232Arg)	OR5M8 (G232R)	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

ClinVar

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Links from Gene

Items: 42