ClinVar for Gene (Select 441639) - ClinVar

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Links from Gene

Items: 30

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3303481	NM_001005243.2(OR9K2):c.205C>A (p.Leu69Ile)	OR9K2 (L69I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3303480	NM_001005243.2(OR9K2):c.398T>C (p.Leu133Pro)	OR9K2 (L133P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3303479	NM_001005243.2(OR9K2):c.63G>C (p.Arg21Ser)	OR9K2 (R21S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3303478	NM_001005243.2(OR9K2):c.199G>A (p.Gly67Ser)	OR9K2 (G67S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3206907	NM_001005243.2(OR9K2):c.17C>G (p.Thr6Arg)	OR9K2 (T6R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3206906	NM_001005243.2(OR9K2):c.394C>A (p.Pro132Thr)	OR9K2 (P132T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3206905	NM_001005243.2(OR9K2):c.372C>A (p.Asp124Glu)	OR9K2 (D124E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3206903	NM_001005243.2(OR9K2):c.356C>T (p.Ala119Val)	OR9K2 (A119V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2600262	NM_001005243.2(OR9K2):c.665T>C (p.Met222Thr)	OR9K2 (M222T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2556180	NM_001005243.2(OR9K2):c.769G>A (p.Ala257Thr)	OR9K2 (A257T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2554100	NM_001005243.2(OR9K2):c.291T>G (p.Phe97Leu)	OR9K2 (F97L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2485943	NM_001005243.2(OR9K2):c.571T>A (p.Ser191Thr)	OR9K2 (S191T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2471266	NM_001005243.2(OR9K2):c.241G>A (p.Glu81Lys)	OR9K2 (E81K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2460314	NM_001005243.2(OR9K2):c.169C>T (p.Arg57Trp)	OR9K2 (R57W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2393406	NM_001005243.2(OR9K2):c.-2C>A	OR9K2	Single nucleotide variant (5 prime UTR variant)	not specified	GUncertain significance
Select item 2382285	NM_001005243.2(OR9K2):c.452C>T (p.Ser151Phe)	OR9K2 (S151F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2372168	NM_001005243.2(OR9K2):c.690G>T (p.Lys230Asn)	OR9K2 (K230N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2371203	NM_001005243.2(OR9K2):c.184A>G (p.Met62Val)	OR9K2 (M62V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2313910	NM_001005243.2(OR9K2):c.283A>G (p.Ile95Val)	OR9K2 (I95V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2306168	NM_001005243.2(OR9K2):c.755G>A (p.Ser252Asn)	OR9K2 (S252N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2278185	NM_001005243.2(OR9K2):c.838T>G (p.Ser280Ala)	OR9K2 (S280A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2270276	NM_001005243.2(OR9K2):c.602T>C (p.Ile201Thr)	OR9K2 (I201T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2259615	NM_001005243.2(OR9K2):c.293C>T (p.Ala98Val)	OR9K2 (A98V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2226263	NM_001005243.2(OR9K2):c.370G>A (p.Asp124Asn)	OR9K2 (D124N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2215793	NM_001005243.2(OR9K2):c.553C>T (p.Arg185Cys)	OR9K2 (R185C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 441984	GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)	SLC15A5, SLC16A7 +1006 more	Copy number gain	See cases	GPathogenic
Select item 441983	GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)x3	A2M, A2ML1 +1006 more	Copy number gain	See cases	GPathogenic
Select item 268075	GRCh37/hg19 12p13.33-q24.33(chr12:1-133851895)x3	GALNT8, H2AJ +1007 more	Copy number gain	See cases	GPathogenic
Select item 152934	GRCh38/hg38 12q13.13-13.3(chr12:53420606-56202942)x3	PMEL, PPP1R1A +219 more	Copy number gain	See cases	GPathogenic
Select item 150740	GRCh38/hg38 12p13.33-q24.33(chr12:121271-133196807)x3	FERRY3, FGD4 +4837 more	Copy number gain	See cases	GPathogenic

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Links from Gene

Items: 30