"Ambry Genetics"[submitter] AND "HTR2C"[gene] - ClinVar - NCBI

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Items: 12

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2536578	NM_000868.4(HTR2C):c.203T>C (p.Ile68Thr)	HTR2C (I68T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2509140	NM_000868.4(HTR2C):c.553G>A (p.Val185Ile)	HTR2C, LOC126863306 (C153Y +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2331461	NM_000868.4(HTR2C):c.892G>A (p.Gly298Ser)	HTR2C, LOC126863306 (G298S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2496259	NM_000868.4(HTR2C):c.929C>T (p.Ser310Leu)	HTR2C, LOC126863306 (S310L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2290723	NM_000868.4(HTR2C):c.1010G>T (p.Cys337Phe)	HTR2C, LOC126863306 (C337F)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2460618	NM_000868.4(HTR2C):c.1120A>C (p.Ile374Leu)	HTR2C, LOC126863306 (I374L)	Single nucleotide variant (missense variant +1 more)	HTR2C-related condition +1 more	GUncertain significance
Select item 2252830	NM_000868.4(HTR2C):c.1166T>C (p.Val389Ala)	HTR2C, LOC126863306 (V389A)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 2607228	NM_000868.4(HTR2C):c.1180C>T (p.Pro394Ser)	HTR2C, LOC126863306 (P394S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2315709	NM_000868.4(HTR2C):c.1191G>C (p.Gln397His)	HTR2C, LOC126863306 (Q397H)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 986021	NM_000868.4(HTR2C):c.1219_1222del (p.Ser407fs)	HTR2C, LOC126863306 (S407fs)	Deletion (frameshift variant +1 more)	Inborn genetic diseases	GLikely pathogenic
Select item 2491947	NM_000868.4(HTR2C):c.1250G>A (p.Arg417Gln)	HTR2C, LOC126863306 (R417Q)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2616738	NM_000868.4(HTR2C):c.1312G>C (p.Val438Leu)	HTR2C, LOC126863306 (V438L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance