2560[Gene ID] - ClinVar - NCBI

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	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 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 2532839	NM_000812.4(GABRB1):c.7A>G (p.Thr3Ala)	GABRB1 (T3A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1926971	NM_000812.4(GABRB1):c.11T>C (p.Val4Ala)	GABRB1 (V4A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2065836	NM_000812.4(GABRB1):c.13C>G (p.Gln5Glu)	GABRB1 (Q5E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1509898	NM_000812.4(GABRB1):c.17A>G (p.Asn6Ser)	GABRB1 (N6S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3008022	NM_000812.4(GABRB1):c.20G>A (p.Arg7Gln)	GABRB1 (R7Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1934546	NM_000812.4(GABRB1):c.26G>C (p.Ser9Thr)	GABRB1 (S9T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3097825	NM_000812.4(GABRB1):c.27T>A (p.Ser9Arg)	GABRB1 (S9R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3029793	NM_000812.4(GABRB1):c.33G>T (p.Gly11=)	GABRB1	Single nucleotide variant (synonymous variant)	GABRB1-related disorder	GLikely benign
Select item 1940427	NM_000812.4(GABRB1):c.33G>C (p.Gly11=)	GABRB1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1946972	NM_000812.4(GABRB1):c.34C>T (p.Leu12Phe)	GABRB1 (L12F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2752193	NM_000812.4(GABRB1):c.36T>A (p.Leu12=)	GABRB1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1956132	NM_000812.4(GABRB1):c.37C>G (p.Leu13Val)	GABRB1 (L13V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1951447	NM_000812.4(GABRB1):c.37C>T (p.Leu13Phe)	GABRB1 (L13F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2873240	NM_000812.4(GABRB1):c.46C>T (p.Pro16Ser)	GABRB1 (P16S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1375956	NM_000812.4(GABRB1):c.46C>A (p.Pro16Thr)	GABRB1 (P16T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1968949	NM_000812.4(GABRB1):c.47C>A (p.Pro16His)	GABRB1 (P16H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2413618	NM_000812.4(GABRB1):c.52A>G (p.Met18Val)	GABRB1 (M18V)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2898259	NM_000812.4(GABRB1):c.58A>G (p.Thr20Ala)	GABRB1 (T20A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1632418	NM_000812.4(GABRB1):c.60C>T (p.Thr20=)	GABRB1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2881925	NM_000812.4(GABRB1):c.61A>G (p.Met21Val)	GABRB1 (M21V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2692913	NM_000812.4(GABRB1):c.63G>C (p.Met21Ile)	GABRB1 (M21I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3003657	NM_000812.4(GABRB1):c.71G>T (p.Cys24Phe)	GABRB1 (C24F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2795217	NM_000812.4(GABRB1):c.73G>T (p.Ala25Ser)	GABRB1 (A25S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2585086	NM_000812.4(GABRB1):c.74C>G (p.Ala25Gly)	GABRB1 (A25G)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 45	GUncertain significance
Select item 2139045	NM_000812.4(GABRB1):c.80+3G>A	GABRB1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2047939	NM_000812.4(GABRB1):c.80+14G>A	GABRB1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1660363	NM_000812.4(GABRB1):c.80+14G>C	GABRB1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1663468	NM_000812.4(GABRB1):c.80+15T>C	GABRB1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1648239	NM_000812.4(GABRB1):c.80+20TC[4]	GABRB1	Microsatellite (intron variant)	not provided	GLikely benign
Select item 1601539	NM_000812.4(GABRB1):c.80+20TC[3]	GABRB1	Microsatellite (intron variant)	not provided	GBenign
Select item 1667970	NM_000812.4(GABRB1):c.80+24_80+29del	GABRB1	Deletion (intron variant)	not provided	GBenign
Select item 1636982	NM_000812.4(GABRB1):c.80+24_80+33del	GABRB1	Deletion (intron variant)	not provided	GLikely benign
Select item 1633061	NM_000812.4(GABRB1):c.80+24_80+31del	GABRB1	Deletion (intron variant)	not provided	GLikely benign
Select item 1547222	NM_000812.4(GABRB1):c.80+22_80+23del	GABRB1	Microsatellite (intron variant)	not provided	GLikely benign
Select item 1285290	NM_000812.4(GABRB1):c.80+24_80+25del	GABRB1	Deletion (intron variant)	not specified +1 more	GBenign
Select item 1529280	NM_000812.4(GABRB1):c.81-13T>A	GABRB1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1662935	NM_000812.4(GABRB1):c.81-8C>T	GABRB1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1499966	NM_000812.4(GABRB1):c.81-3T>C	GABRB1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1350780	NM_000812.4(GABRB1):c.86A>G (p.Asn29Ser)	GABRB1 (N29S)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 2082021	NM_000812.4(GABRB1):c.91C>A (p.Pro31Thr)	GABRB1 (P31T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1495657	NM_000812.4(GABRB1):c.91C>T (p.Pro31Ser)	GABRB1 (P31S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3097826	NM_000812.4(GABRB1):c.92C>T (p.Pro31Leu)	GABRB1 (P31L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1993615	NM_000812.4(GABRB1):c.99C>A (p.Asn33Lys)	GABRB1 (N33K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1657633	NM_000812.4(GABRB1):c.117G>A (p.Glu39=)	GABRB1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2705910	NM_000812.4(GABRB1):c.119C>G (p.Thr40Arg)	GABRB1 (T40R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2044860	NM_000812.4(GABRB1):c.122T>C (p.Val41Ala)	GABRB1 (V41A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2812993	NM_000812.4(GABRB1):c.127A>G (p.Arg43Gly)	GABRB1 (R43G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1461646	NM_000812.4(GABRB1):c.136A>G (p.Lys46Glu)	GABRB1 (K46E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2881521	NM_000812.4(GABRB1):c.144T>C (p.Tyr48=)	GABRB1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2195211	NM_000812.4(GABRB1):c.150T>C (p.Ile50=)	GABRB1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1536988	NM_000812.4(GABRB1):c.154T>C (p.Leu52=)	GABRB1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 431076	NM_000812.4(GABRB1):c.157C>T (p.Arg53Trp)	GABRB1 (R53W)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 45	GLikely pathogenic
Select item 2095043	NM_000812.4(GABRB1):c.162G>C (p.Pro54=)	GABRB1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1352954	NM_000812.4(GABRB1):c.162G>A (p.Pro54=)	GABRB1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1439092	NM_000812.4(GABRB1):c.163G>A (p.Asp55Asn)	GABRB1 (D55N)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 1406318	NM_000812.4(GABRB1):c.172+3A>C	GABRB1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1471709	NM_000812.4(GABRB1):c.172+6G>T	GABRB1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2892561	NM_000812.4(GABRB1):c.172+7C>T	GABRB1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2001018	NM_000812.4(GABRB1):c.172+11A>T	GABRB1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1599457	NM_000812.4(GABRB1):c.172+19dup	GABRB1	Duplication (intron variant)	not provided	GBenign
Select item 1548577	NM_000812.4(GABRB1):c.172+13C>G	GABRB1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1652584	NM_000812.4(GABRB1):c.172+17T>C	GABRB1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2879457	NM_000812.4(GABRB1):c.172+18T>C	GABRB1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2100423	NM_000812.4(GABRB1):c.172+20C>A	GABRB1	Single nucleotide variant (intron variant)	not specified +1 more	GLikely benign
Select item 3255284	NM_000812.4(GABRB1):c.172+53G>A	GABRB1	Single nucleotide variant (intron variant)	not specified	GBenign
Select item 2050588	NM_000812.4(GABRB1):c.173-16C>T	GABRB1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1630863	NM_000812.4(GABRB1):c.173-13A>G	GABRB1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1590918	NM_000812.4(GABRB1):c.173-13A>T	GABRB1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2124951	NM_000812.4(GABRB1):c.173-12C>T	GABRB1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2047521	NM_000812.4(GABRB1):c.173-8C>G	GABRB1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2860548	NM_000812.4(GABRB1):c.173-6C>T	GABRB1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1471839	NM_000812.4(GABRB1):c.173-5G>A	GABRB1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1552628	NM_000812.4(GABRB1):c.173-4G>A	GABRB1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1584123	NM_000812.4(GABRB1):c.174G>T (p.Gly58=)	GABRB1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3008740	NM_000812.4(GABRB1):c.175C>T (p.Pro59Ser)	GABRB1 (P59S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2789895	NM_000812.4(GABRB1):c.178C>T (p.Pro60Ser)	GABRB1 (P60S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2119934	NM_000812.4(GABRB1):c.180C>G (p.Pro60=)	GABRB1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2061271	NM_000812.4(GABRB1):c.180C>A (p.Pro60=)	GABRB1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1952147	NM_000812.4(GABRB1):c.188T>C (p.Val63Ala)	GABRB1 (V63A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1353367	NM_000812.4(GABRB1):c.208G>T (p.Ala70Ser)	GABRB1 (A70S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1662767	NM_000812.4(GABRB1):c.210C>T (p.Ala70=)	GABRB1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2825813	NM_000812.4(GABRB1):c.215T>G (p.Ile72Arg)	GABRB1 (I72R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2055928	NM_000812.4(GABRB1):c.236A>G (p.Asn79Ser)	GABRB1 (N79S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 762428	NM_000812.4(GABRB1):c.237T>C (p.Asn79=)	GABRB1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1473732	NM_000812.4(GABRB1):c.240+3G>A	GABRB1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1561241	NM_000812.4(GABRB1):c.240+7G>A	GABRB1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2986417	NM_000812.4(GABRB1):c.240+8G>A	GABRB1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1626385	NM_000812.4(GABRB1):c.240+10C>T	GABRB1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1643646	NM_000812.4(GABRB1):c.240+13C>T	GABRB1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2827617	NM_000812.4(GABRB1):c.240+18G>T	GABRB1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2978867	NM_000812.4(GABRB1):c.240+19G>C	GABRB1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2133182	NM_000812.4(GABRB1):c.241-18G>A	GABRB1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3001941	NM_000812.4(GABRB1):c.241-17C>T	GABRB1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2000264	NM_000812.4(GABRB1):c.241-14T>C	GABRB1	Single nucleotide variant (intron variant)	not provided	GLikely benign

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