GABRG1[gene] - ClinVar

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Items: 46

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2579172	GRCh38/hg38 4p16.3-11(chr4:1-49062177)x3	LOC123477714, LOC123477715 +1267 more	Copy number gain	Neurodevelopmental disorder	GPathogenic
Select item 148186	GRCh38/hg38 4p16.3-12(chr4:36424-47491595)x3	LOC129992145, LOC129992146 +1209 more	Copy number gain	See cases	GPathogenic
Select item 2579174	GRCh38/hg38 4p16.3-q12(chr4:85624-57073230)x3	LOC129992561, LOC129992562 +1409 more	Copy number gain	Neurodevelopmental disorder	GPathogenic
Select item 148977	GRCh38/hg38 4p14-12(chr4:39444586-46117146)x3	APBB2, ATP8A1 +160 more	Copy number gain	See cases	GUncertain significance
Select item 145612	GRCh38/hg38 4p14-11(chr4:40496476-49579850)x3	LOC126807045, LOC126807046 +171 more	Copy number gain	See cases	GPathogenic
Select item 57074	GRCh38/hg38 4p13-q13.1(chr4:44356201-62245882)x3	AASDH, ADGRL3 +244 more	Copy number gain	See cases	GPathogenic
Select item 58027	GRCh38/hg38 4p13-11(chr4:44577678-49081273)x3	LOC129992578, MIR8053 +81 more	Copy number gain	See cases	GPathogenic
Select item 147482	GRCh38/hg38 4p12(chr4:45692658-46058566)x1	GABRG1, LOC129389210	Copy number loss	See cases	GUncertain significance
Select item 2601278	NM_173536.4(GABRG1):c.1378G>A (p.Val460Ile)	GABRG1 (V460I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3097848	NM_173536.4(GABRG1):c.1335A>G (p.Ile445Met)	GABRG1 (I445M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3097846	NM_173536.4(GABRG1):c.1265G>C (p.Cys422Ser)	GABRG1 (C422S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2298754	NM_173536.4(GABRG1):c.1233T>G (p.Asp411Glu)	GABRG1 (D411E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2331387	NM_173536.4(GABRG1):c.1225G>T (p.Gly409Cys)	GABRG1 (G409C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2310023	NM_173536.4(GABRG1):c.1181T>C (p.Ile394Thr)	GABRG1 (I394T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2570504	NM_173536.4(GABRG1):c.1171A>G (p.Met391Val)	GABRG1 (M391V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2270969	NM_173536.4(GABRG1):c.1148A>G (p.His383Arg)	GABRG1 (H383R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2454335	NM_173536.4(GABRG1):c.1130C>T (p.Ser377Leu)	GABRG1 (S377L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2336043	NM_173536.4(GABRG1):c.1099A>G (p.Thr367Ala)	GABRG1 (T367A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2474909	NM_173536.4(GABRG1):c.1073C>T (p.Thr358Ile)	GABRG1 (T358I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2273229	NM_173536.4(GABRG1):c.642T>G (p.Asn214Lys)	GABRG1 (N214K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2489581	NM_173536.4(GABRG1):c.589A>G (p.Met197Val)	GABRG1 (M197V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 789997	NM_173536.4(GABRG1):c.387C>T (p.Thr129=)	GABRG1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2316626	NM_173536.4(GABRG1):c.372A>C (p.Leu124Phe)	GABRG1 (L124F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2229749	NM_173536.4(GABRG1):c.370T>G (p.Leu124Val)	GABRG1 (L124V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2455507	NM_173536.4(GABRG1):c.341T>A (p.Ile114Asn)	GABRG1 (I114N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3097850	NM_173536.4(GABRG1):c.328A>G (p.Thr110Ala)	GABRG1 (T110A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2518361	NM_173536.4(GABRG1):c.248T>C (p.Ile83Thr)	GABRG1 (I83T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3097849	NM_173536.4(GABRG1):c.172A>G (p.Lys58Glu)	GABRG1 (K58E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3097847	NM_173536.4(GABRG1):c.129T>A (p.Asp43Glu)	GABRG1 (D43E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3097851	NM_173536.4(GABRG1):c.37C>A (p.Leu13Ile)	GABRG1 (L13I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 161829	NM_173536.4(GABRG1):c.32C>T (p.Pro11Leu)	GABRG1 (P11L)	Single nucleotide variant (missense variant)	Malignant tumor of prostate	GUncertain significance
Select item 3062750	GRCh37/hg19 4p16.3-11(chr4:68345-49089361)x3	ABLIM2, ACOX3 +226 more	Copy number gain	not specified	GPathogenic
Select item 3024631	GRCh37/hg19 4p12-q35.2(chr4:45455621-191003541)x3	SPATA18, SPATA4 +537 more	Copy number gain	not provided	GPathogenic
Select item 1711164	GRCh37/hg19 4p16.3-11(chr4:68345-49089361)x3	ABLIM2, ACOX3 +226 more	Copy number gain	See cases	GPathogenic
Select item 1704651	GRCh37/hg19 4p16.3-12(chr4:114784-47569569)x3	ABLIM2, ACOX3 +212 more	Copy number gain	FETAL DEMISE	GPathogenic
Select item 929396	GRCh37/hg19 4p16.3-11(chr4:49450-49620898)x3	KLF3, KLHL5 +226 more	Copy number gain	See cases	GPathogenic
Select item 694454	GRCh37/hg19 4p12-11(chr4:45868775-48273513)x3	ATP10D, CNGA1 +11 more	Copy number gain	Autism	GLikely pathogenic
Select item 562908	GRCh37/hg19 4p13-12(chr4:42193789-47001790)x3	COX7B2, GABRG1 +9 more	Copy number gain	not provided	GUncertain significance
Select item 562874	GRCh37/hg19 4p16.3-11(chr4:68345-49089361)x3	GABRA2, GABRA4 +226 more	Copy number gain	not provided	GPathogenic
Select item 441812	GRCh37/hg19 4p16.3-q13.1(chr4:68345-66440622)x3	HTRA3, HTT +267 more	Copy number gain	See cases	GPathogenic
Select item 441728	GRCh37/hg19 4p16.3-q35.2(chr4:68346-190957473)	C4orf51, CABS1 +745 more	Copy number gain	See cases	GPathogenic
Select item 441727	GRCh37/hg19 4p16.3-q35.2(chr4:68346-190957473)x3	NAA11, NAA15 +745 more	Copy number gain	See cases	GPathogenic
Select item 441660	GRCh37/hg19 4p12(chr4:44637850-46618566)x1	GABRA2, GABRG1 +3 more	Copy number loss	See cases	GUncertain significance
Select item 394609	GRCh37/hg19 4p16.3-q35.2(chr4:12440-190904441)x3	HELT, HERC3 +744 more	Copy number gain	See cases	GPathogenic
Select item 253503	GRCh37/hg19 4p16.3-11(chr4:12440-49064044)x3	ABLIM2, ACOX3 +226 more	Copy number gain	See cases	GPathogenic
Select item 253447	GRCh37/hg19 4p14-11(chr4:38532827-49064044)x3	CHRNA9, CWH43 +54 more	Copy number gain	See cases	GPathogenic

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Items: 46