GNAI3[gene] and "single gene"[properties] - ClinVar

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Items: 43

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1274531	NM_006496.4(GNAI3):c.-72C>T	GNAI3	Single nucleotide variant (5 prime UTR variant)	not provided	GBenign
Select item 1262343	NM_006496.4(GNAI3):c.-61C>T	GNAI3	Single nucleotide variant (5 prime UTR variant)	not provided	GBenign
Select item 1809757	NM_006496.4(GNAI3):c.119G>T (p.Gly40Val)	GNAI3 (G40V)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 2663775	NM_006496.4(GNAI3):c.136A>G (p.Lys46Glu)	GNAI3 (K46E)	Single nucleotide variant (missense variant)	Auriculocondylar syndrome 1	GLikely pathogenic
Select item 450201	NM_006496.4(GNAI3):c.140G>A (p.Ser47Asn)	GNAI3 (S47N)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 64691	NM_006496.4(GNAI3):c.141C>A (p.Ser47Arg)	GNAI3 (S47R)	Single nucleotide variant (missense variant)	Auriculocondylar syndrome 1	GPathogenic
Select item 988478	NM_006496.4(GNAI3):c.143C>A (p.Thr48Asn)	GNAI3 (T48N)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 2432198	NM_006496.4(GNAI3):c.145A>G (p.Ile49Val)	GNAI3 (I49V)	Single nucleotide variant (missense variant)	Auriculocondylar syndrome 1	GUncertain significance
Select item 548497	NM_006496.4(GNAI3):c.146T>C (p.Ile49Thr)	GNAI3 (I49T)	Single nucleotide variant (missense variant)	Auriculocondylar syndrome 1	GUncertain significance
Select item 1973080	NM_006496.4(GNAI3):c.157A>G (p.Met53Val)	GNAI3 (M53V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1971553	NM_006496.4(GNAI3):c.161+18G>A	GNAI3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2064232	NM_006496.4(GNAI3):c.162-7T>C	GNAI3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2692102	NM_006496.4(GNAI3):c.169C>T (p.His57Tyr)	GNAI3 (H57Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3100558	NM_006496.4(GNAI3):c.250A>G (p.Ile84Val)	GNAI3 (I84V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 740509	NM_006496.4(GNAI3):c.269G>A (p.Arg90Gln)	GNAI3 (R90Q)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely benign
Select item 989287	NM_006496.4(GNAI3):c.303+1G>A	GNAI3	Single nucleotide variant (splice donor variant)	Auriculocondylar syndrome 1	GUncertain significance
Select item 2095917	NM_006496.4(GNAI3):c.322T>C (p.Phe108Leu)	GNAI3 (F108L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2022114	NM_006496.4(GNAI3):c.367C>G (p.Leu123Val)	GNAI3 (L123V)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2251124	NM_006496.4(GNAI3):c.374G>C (p.Gly125Ala)	GNAI3 (G125A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3100559	NM_006496.4(GNAI3):c.386G>A (p.Arg129Gln)	GNAI3 (R129Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1080250	NM_006496.4(GNAI3):c.400G>A (p.Gly134Ser)	GNAI3 (G134S)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 2170169	NM_006496.4(GNAI3):c.408A>T (p.Val136=)	GNAI3	Single nucleotide variant (synonymous variant)	GNAI3-related disorder +1 more	GBenign/Likely benign
Select item 1231480	NM_006496.4(GNAI3):c.462-171C>T	GNAI3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 725932	NM_006496.4(GNAI3):c.509C>T (p.Thr170Ile)	GNAI3 (T170I)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2893168	NM_006496.4(GNAI3):c.570C>G (p.Thr190=)	GNAI3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3042466	NM_006496.4(GNAI3):c.588C>T (p.Phe196=)	GNAI3	Single nucleotide variant (synonymous variant)	GNAI3-related disorder	GLikely benign
Select item 1266100	NM_006496.4(GNAI3):c.590+198G>A	GNAI3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1255111	NM_006496.4(GNAI3):c.591-193A>G	GNAI3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1599770	NM_006496.4(GNAI3):c.591-18T>G	GNAI3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2265257	NM_006496.4(GNAI3):c.661A>G (p.Ile221Val)	GNAI3 (I221V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2244400	NM_006496.4(GNAI3):c.712G>A (p.Glu238Lys)	GNAI3 (E238K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2635960	NM_006496.4(GNAI3):c.790A>G (p.Ile264Val)	GNAI3 (I264V)	Single nucleotide variant (missense variant)	GNAI3-related disorder	GUncertain significance
Select item 2856207	NM_006496.4(GNAI3):c.882T>C (p.Asn294=)	GNAI3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1700285	NM_006496.4(GNAI3):c.883A>G (p.Thr295Ala)	GNAI3 (T295A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2155787	NM_006496.4(GNAI3):c.903C>T (p.Ala301=)	GNAI3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2473847	NM_006496.4(GNAI3):c.950A>G (p.Lys317Arg)	GNAI3 (K317R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3100561	NM_006496.4(GNAI3):c.954G>C (p.Glu318Asp)	GNAI3 (E318D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2041797	NM_006496.4(GNAI3):c.972C>T (p.Thr324=)	GNAI3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 917731	NM_006496.4(GNAI3):c.986C>T (p.Thr329Met)	GNAI3 (T329M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 718422	NM_006496.4(GNAI3):c.987G>A (p.Thr329=)	GNAI3	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 2849262	NM_006496.4(GNAI3):c.1035A>G (p.Lys345=)	GNAI3	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1313427	NM_006496.4(GNAI3):c.1037A>T (p.Asn346Ile)	GNAI3 (N346I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3043340	NM_006496.4(GNAI3):c.1042T>C (p.Leu348=)	GNAI3	Single nucleotide variant (synonymous variant)	GNAI3-related disorder	GLikely benign

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Items: 43