"Ambry Genetics"[submitter] AND "GHSR"[gene] - ClinVar

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Items: 24

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 985552	NM_198407.2(GHSR):c.1069C>T (p.Arg357Trp)	GHSR (R357W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3281357	NM_198407.2(GHSR):c.1065T>G (p.Ser355Arg)	GHSR (S355R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3099749	NM_198407.2(GHSR):c.998C>T (p.Ala333Val)	GHSR (A333V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2621003	NM_198407.2(GHSR):c.978G>A (p.Met326Ile)	GHSR (M326I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2279034	NM_198407.2(GHSR):c.940C>T (p.Leu314Phe)	GHSR (L314F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 900225	NM_198407.2(GHSR):c.823T>C (p.Cys275Arg)	GHSR (C275R)	Single nucleotide variant (missense variant)	Short stature due to growth hormone secretagogue receptor deficiency +2 more	GConflicting classifications of pathogenicity
Select item 985301	NM_198407.2(GHSR):c.820C>T (p.Leu274Phe)	GHSR (L274F)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 7634	NM_198407.2(GHSR):c.709A>T (p.Arg237Trp)	GHSR (R237W)	Single nucleotide variant (missense variant)	Short stature due to growth hormone secretagogue receptor deficiency +2 more	GUncertain significance
Select item 3099748	NM_198407.2(GHSR):c.686C>T (p.Thr229Met)	GHSR (T229M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3099747	NM_198407.2(GHSR):c.659T>G (p.Phe220Cys)	GHSR (F220C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2381730	NM_198407.2(GHSR):c.647T>C (p.Val216Ala)	GHSR (V216A)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 7632	NM_198407.2(GHSR):c.611C>A (p.Ala204Glu)	GHSR (A204E)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1962623	NM_198407.2(GHSR):c.440T>A (p.Phe147Tyr)	GHSR (F147Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 3099745	NM_198407.2(GHSR):c.431C>T (p.Ala144Val)	GHSR (A144V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1209321	NM_198407.2(GHSR):c.422G>C (p.Arg141Pro)	GHSR (R141P)	Single nucleotide variant (missense variant)	Short stature due to growth hormone secretagogue receptor deficiency +3 more	GUncertain significance
Select item 2474012	NM_198407.2(GHSR):c.367A>C (p.Ser123Arg)	GHSR (S123R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3281358	NM_198407.2(GHSR):c.355T>G (p.Phe119Val)	GHSR (F119V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2615765	NM_198407.2(GHSR):c.217G>C (p.Glu73Gln)	GHSR (E73Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2191613	NM_198407.2(GHSR):c.146C>T (p.Thr49Ile)	GHSR (T49I)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 901380	NM_198407.2(GHSR):c.124C>G (p.Leu42Val)	GHSR (L42V)	Single nucleotide variant (missense variant)	Short stature due to growth hormone secretagogue receptor deficiency +2 more	GUncertain significance
Select item 2324649	NM_198407.2(GHSR):c.58G>T (p.Asp20Tyr)	GHSR (D20Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2600487	NM_198407.2(GHSR):c.56T>A (p.Leu19Gln)	GHSR (L19Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2299538	NM_198407.2(GHSR):c.14C>T (p.Thr5Met)	GHSR (T5M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3099746	NM_198407.2(GHSR):c.4T>C (p.Trp2Arg)	GHSR (W2R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance

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Items: 24