Related gene-specific medical variations for Gene (Select 5707) - ClinVar

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Items: 31

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3107509	NM_000867.5(HTR2B):c.985G>T (p.Val329Leu)	HTR2B, PSMD1 (V287L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3107507	NM_000867.5(HTR2B):c.766C>T (p.Pro256Ser)	HTR2B, PSMD1 (P256S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3107506	NM_000867.5(HTR2B):c.458G>A (p.Arg153His)	HTR2B, PSMD1 (R111H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3107505	NM_000867.5(HTR2B):c.413T>C (p.Phe138Ser)	HTR2B, PSMD1 (F138S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3107503	NM_000867.5(HTR2B):c.127A>G (p.Met43Val)	HTR2B, PSMD1 (M43V +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3107502	NM_000867.5(HTR2B):c.1253G>A (p.Arg418Gln)	HTR2B, PSMD1 (R376Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3107501	NM_000867.5(HTR2B):c.1243A>T (p.Ile415Phe)	HTR2B, PSMD1 (I373F +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2607227	NM_000867.5(HTR2B):c.368T>C (p.Leu123Pro)	HTR2B, PSMD1 (L81P +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2606426	NM_000867.5(HTR2B):c.325C>A (p.Pro109Thr)	HTR2B, PSMD1 (P109T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2593268	NM_000867.5(HTR2B):c.1231C>T (p.Arg411Cys)	HTR2B, PSMD1 (R411C +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2555334	NM_000867.5(HTR2B):c.1410A>C (p.Glu470Asp)	HTR2B, PSMD1 (E428D +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2536150	NM_000867.5(HTR2B):c.106A>T (p.Thr36Ser)	HTR2B, PSMD1 (T36S)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2536149	NM_000867.5(HTR2B):c.105G>C (p.Gln35His)	HTR2B, PSMD1 (Q35H)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2480448	NM_000867.5(HTR2B):c.954C>G (p.Asn318Lys)	HTR2B, PSMD1 (N318K +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2396657	NM_000867.5(HTR2B):c.14A>C (p.Tyr5Ser)	HTR2B, PSMD1 (Y5S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2391625	NM_000867.5(HTR2B):c.76G>A (p.Val26Ile)	HTR2B, PSMD1 (V26I)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2361287	NM_000867.5(HTR2B):c.505C>T (p.Arg169Trp)	HTR2B, PSMD1 (R127W +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2333956	NM_000867.5(HTR2B):c.860C>T (p.Ser287Phe)	HTR2B, PSMD1 (S245F +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2323211	NM_000867.5(HTR2B):c.815A>G (p.Glu272Gly)	HTR2B, PSMD1 (E272G +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2291523	NM_000867.5(HTR2B):c.308T>C (p.Val103Ala)	HTR2B, PSMD1 (V61A +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2238440	NM_000867.5(HTR2B):c.925G>A (p.Gly309Arg)	HTR2B, PSMD1 (G309R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2235061	NM_000867.5(HTR2B):c.1388C>A (p.Thr463Lys)	HTR2B, PSMD1 (T463K +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2234133	NM_000867.5(HTR2B):c.364C>A (p.Pro122Thr)	HTR2B, PSMD1 (P80T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 791236	NM_000867.5(HTR2B):c.91T>C (p.Trp31Arg)	HTR2B, PSMD1 (W31R)	Single nucleotide variant (missense variant +2 more)	not provided	GBenign
Select item 791235	NM_000867.5(HTR2B):c.1261A>G (p.Met421Val)	HTR2B, PSMD1 (M379V +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 779324	NM_000867.5(HTR2B):c.152G>A (p.Gly51Glu)	HTR2B, PSMD1 (G9E +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 779323	NM_000867.5(HTR2B):c.1314C>T (p.Asn438=)	HTR2B, PSMD1	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 725269	NM_000867.5(HTR2B):c.834G>A (p.Pro278=)	HTR2B, PSMD1	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 709655	NM_000867.5(HTR2B):c.622G>T (p.Val208Leu)	PSMD1, HTR2B (V166L +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 618175	NM_000867.5(HTR2B):c.463A>G (p.Ile155Val)	PSMD1, HTR2B (I155V +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 430831	NM_000867.5(HTR2B):c.736A>T (p.Lys246Ter)	HTR2B, PSMD1 (K246* +1 more)	Single nucleotide variant (nonsense +1 more)	Bardet-Biedl syndrome	GUncertain significance

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Links from Gene

Items: 31