ClinVar for Gene (Select 2557) - ClinVar

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Items: 52

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3097819	NM_000809.4(GABRA4):c.341T>C (p.Ile114Thr)	GABRA4 (I114T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3097817	NM_000809.4(GABRA4):c.334G>A (p.Gly112Ser)	GABRA4 (G93S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3097816	NM_000809.4(GABRA4):c.1656T>A (p.Ser552Arg)	GABRA4 (S482R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3097815	NM_000809.4(GABRA4):c.1517C>T (p.Ser506Leu)	GABRA4 (S506L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3097814	NM_000809.4(GABRA4):c.1474A>G (p.Thr492Ala)	GABRA4 (T473A +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3097813	NM_000809.4(GABRA4):c.1225C>G (p.His409Asp)	GABRA4 (H339D +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3097811	NM_000809.4(GABRA4):c.1110G>C (p.Glu370Asp)	GABRA4 (E370D +2 more)	Single nucleotide variant (missense variant)	not specified	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 3041389	NM_000809.4(GABRA4):c.1063A>G (p.Thr355Ala)	GABRA4 (T285A +2 more)	Single nucleotide variant (missense variant)	GABRA4-related disorder	GLikely benign
Select item 3024631	GRCh37/hg19 4p12-q35.2(chr4:45455621-191003541)x3	DDX60L, MTHFD2L +537 more	Copy number gain	not provided	GPathogenic
Select item 2691736	NM_000809.4(GABRA4):c.899C>T (p.Thr300Ile)	GABRA4 (T300I +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2686038	NM_000809.4(GABRA4):c.899C>A (p.Thr300Asn)	GABRA4 (T230N +2 more)	Single nucleotide variant (missense variant)	GABRA4-related developmental and epileptic encephalopathy	GUncertain significance
Select item 2614611	NM_000809.4(GABRA4):c.376A>C (p.Lys126Gln)	GABRA4 (K107Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2579174	GRCh38/hg38 4p16.3-q12(chr4:85624-57073230)x3	LOC129992561, LOC129992562 +1409 more	Copy number gain	Neurodevelopmental disorder	GPathogenic
Select item 2579172	GRCh38/hg38 4p16.3-11(chr4:1-49062177)x3	LOC123477714, LOC123477715 +1267 more	Copy number gain	Neurodevelopmental disorder	GPathogenic
Select item 2558193	NM_000809.4(GABRA4):c.1427G>A (p.Arg476His)	GABRA4 (R476H +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2549217	NM_000809.4(GABRA4):c.136G>A (p.Glu46Lys)	GABRA4 (E27K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2529346	NM_000809.4(GABRA4):c.859G>T (p.Ala287Ser)	GABRA4 (A268S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2502199	NM_000809.4(GABRA4):c.1087C>T (p.Pro363Ser)	GABRA4 (P293S +2 more)	Single nucleotide variant (missense variant)	GABRA4-related Epileptic and Neurodevelopmental Disorder	GUncertain significance
Select item 2477762	NM_000809.4(GABRA4):c.1184A>G (p.His395Arg)	GABRA4 (H376R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2364069	NM_000809.4(GABRA4):c.1402G>C (p.Ala468Pro)	GABRA4 (A468P +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2350758	NM_000809.4(GABRA4):c.1277G>A (p.Arg426Gln)	GABRA4 (R356Q +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2350042	NM_000809.4(GABRA4):c.1197T>G (p.Asp399Glu)	GABRA4 (D380E +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2281781	NM_000809.4(GABRA4):c.694T>G (p.Ser232Ala)	GABRA4 (S213A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2274112	NM_000809.4(GABRA4):c.691G>C (p.Val231Leu)	GABRA4 (V212L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2253635	NM_000809.4(GABRA4):c.619G>T (p.Gly207Cys)	GABRA4 (G188C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2251686	NM_000809.4(GABRA4):c.718A>T (p.Thr240Ser)	GABRA4 (T221S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 1431728	NC_000004.11:g.(?_46252325)_(47163506_?)del	COX7B2, GABRA2 +2 more	Deletion	not provided	GUncertain significance
Select item 929396	GRCh37/hg19 4p16.3-11(chr4:49450-49620898)x3	KLF3, KLHL5 +226 more	Copy number gain	See cases	GPathogenic
Select item 769630	NM_000809.4(GABRA4):c.55G>A (p.Ala19Thr)	GABRA4 (A19T)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 762314	NM_000809.4(GABRA4):c.1626A>G (p.Leu542=)	GABRA4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 757568	NM_000809.4(GABRA4):c.273+7A>G	GABRA4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 737522	NM_000809.4(GABRA4):c.975C>G (p.Val325=)	GABRA4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 734596	NM_000809.4(GABRA4):c.375G>A (p.Thr125=)	GABRA4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 728659	NM_000809.4(GABRA4):c.1431C>T (p.His477=)	GABRA4	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 724381	NM_000809.4(GABRA4):c.1005C>T (p.Ile335=)	GABRA4	Single nucleotide variant (synonymous variant)	not provided	GBenign
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 402889	NM_000809.4(GABRA4):c.87-21dup	GABRA4	Duplication (intron variant)	not specified	GBenign
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
Select item 148186	GRCh38/hg38 4p16.3-12(chr4:36424-47491595)x3	LOC129992145, LOC129992146 +1209 more	Copy number gain	See cases	GPathogenic
Select item 145612	GRCh38/hg38 4p14-11(chr4:40496476-49579850)x3	LOC126807045, LOC126807046 +171 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 57074	GRCh38/hg38 4p13-q13.1(chr4:44356201-62245882)x3	AASDH, ADGRL3 +244 more	Copy number gain	See cases	GPathogenic

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Links from Gene

Items: 52