"GeneDx"[submitter] AND "GHSR"[gene] - ClinVar

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Items: 32

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 57982	GRCh38/hg38 3q24-26.32(chr3:147442566-178522531)x3	LOC129937936, LOC129937937 +631 more	Copy number gain	See cases	GPathogenic
Select item 57983	GRCh38/hg38 3q24-29(chr3:147521892-198096565)x3	LOC123453201, LOC123453202 +1450 more	Copy number gain	See cases	GPathogenic
Select item 57984	GRCh38/hg38 3q25.31-29(chr3:157293378-198134727)x3	LOC132088897, LOC132088898 +1201 more	Copy number gain	See cases	GPathogenic
Select item 344196	NM_198407.2(GHSR):c.*122C>T	GHSR	Single nucleotide variant (3 prime UTR variant)	Short stature due to growth hormone secretagogue receptor deficiency +1 more	GBenign
Select item 344197	NM_198407.2(GHSR):c.*114A>G	GHSR	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign
Select item 1033260	NM_198407.2(GHSR):c.1072G>A (p.Ala358Thr)	GHSR (A358T)	Single nucleotide variant (missense variant)	Short stature due to growth hormone secretagogue receptor deficiency +2 more	GConflicting classifications of pathogenicity
Select item 902774	NM_198407.2(GHSR):c.1070G>A (p.Arg357Gln)	GHSR (R357Q)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 523969	NM_198407.2(GHSR):c.878del (p.Gly293fs)	GHSR (G293fs)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 488915	NM_198407.2(GHSR):c.847C>T (p.Arg283Ter)	GHSR (R283*)	Single nucleotide variant (nonsense)	not specified +2 more	GUncertain significance
Select item 2503200	NM_198407.2(GHSR):c.832C>A (p.Pro278Thr)	GHSR (P278T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1222463	NM_198407.2(GHSR):c.797-194C>T	GHSR	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1286049	NM_198407.2(GHSR):c.796+245T>C	GHSR	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1239231	NM_198407.2(GHSR):c.796+219TC[5]	GHSR	Microsatellite (intron variant)	not provided	GBenign
Select item 817023	NM_198407.2(GHSR):c.790del (p.Met264fs)	GHSR (M264fs)	Deletion (frameshift variant)	not provided	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 2505992	NM_198407.2(GHSR):c.704T>C (p.Ile235Thr)	GHSR (I235T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1318569	NM_198407.2(GHSR):c.595C>G (p.Arg199Gly)	GHSR (R199G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1319026	NM_198407.2(GHSR):c.553G>T (p.Glu185Ter)	GHSR (E185*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 3252244	NM_198407.2(GHSR):c.517T>C (p.Cys173Arg)	GHSR (C173R)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 3378383	NM_198407.2(GHSR):c.502T>C (p.Trp168Arg)	GHSR (W168R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 263110	NM_198407.2(GHSR):c.477G>A (p.Arg159=)	GHSR	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign
Select item 344200	NM_198407.2(GHSR):c.447C>G (p.Leu149=)	GHSR	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
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 1187869	NM_198407.2(GHSR):c.422G>T (p.Arg141Leu)	GHSR (R141L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2964540	NM_198407.2(GHSR):c.353T>G (p.Leu118Arg)	GHSR (L118R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 449175	NM_198407.2(GHSR):c.219G>T (p.Glu73Asp)	GHSR (E73D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2442775	NM_198407.2(GHSR):c.173T>A (p.Ile58Asn)	GHSR (I58N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 263109	NM_198407.2(GHSR):c.171C>T (p.Gly57=)	GHSR	Single nucleotide variant (synonymous variant)	Short stature due to growth hormone secretagogue receptor deficiency +2 more	GBenign
Select item 2429525	NM_198407.2(GHSR):c.33del (p.Phe12fs)	GHSR (F12fs)	Deletion (frameshift variant)	not provided +1 more	GUncertain significance
Select item 253377	GRCh37/hg19 3q24-29(chr3:142995020-192997215)x4	AADAC, AADACL2 +220 more	Copy number gain	See cases	GPathogenic
Select item 3361820	NM_198407.2(GHSR):c.575C>T (p.Pro192Leu)	GHSR (P192L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3359958	NM_198407.2(GHSR):c.297_298delinsAT (p.Asp99_Leu100delinsGluPhe)	GHSR	Indel (missense variant)	not provided	GUncertain significance

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Items: 32