18[geneid] - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 1 to 100 of 808

<< First< Prev

Page of 9

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58594	GRCh38/hg38 16p13.3-13.13(chr16:23141-11296695)x3	ABAT, ABCA3 +822 more	Copy number gain	See cases	GPathogenic
Select item 150284	GRCh38/hg38 16p13.3-13.12(chr16:43732-13326806)x3	EEF2KMT, ELOB +917 more	Copy number gain	See cases	GPathogenic
Select item 144298	GRCh38/hg38 16p13.3-13.13(chr16:46766-11525516)x3	ABAT, ABCA3 +843 more	Copy number gain	See cases	GPathogenic
Select item 155643	GRCh38/hg38 16p13.3-13.11(chr16:666662-15743104)x3	ABAT, ABCA3 +926 more	Copy number gain	See cases	GPathogenic
Select item 144327	GRCh38/hg38 16p13.3-11.2(chr16:4644892-29170820)x3	ABAT, ABCC1 +852 more	Copy number gain	See cases	GPathogenic
Select item 147349	GRCh38/hg38 16p13.2(chr16:8241222-9770190)x3	LOC112486224, LOC112486225 +58 more	Copy number gain	See cases	GUncertain significance
Select item 59952	GRCh38/hg38 16p13.2(chr16:8544481-8903449)x3	ABAT, CARHSP1 +23 more	Copy number gain	See cases	GUncertain significance
Select item 151192	GRCh38/hg38 16p13.2(chr16:8579327-9143148)x3	ABAT, CARHSP1 +49 more	Copy number gain	See cases	GUncertain significance
Select item 320836	NM_020686.5(ABAT):c.-150C>A	ABAT	Single nucleotide variant	Gamma-aminobutyric acid transaminase deficiency	GUncertain significance
Select item 884597	NM_020686.6(ABAT):c.-127C>G	ABAT	Single nucleotide variant (5 prime UTR variant)	Gamma-aminobutyric acid transaminase deficiency	GUncertain significance
Select item 320837	NM_020686.6(ABAT):c.-107G>A	ABAT	Single nucleotide variant (5 prime UTR variant)	Gamma-aminobutyric acid transaminase deficiency	GUncertain significance
Select item 320838	NM_020686.6(ABAT):c.-52G>T	ABAT	Single nucleotide variant (5 prime UTR variant)	Gamma-aminobutyric acid transaminase deficiency	GUncertain significance
Select item 150852	GRCh38/hg38 16p13.2(chr16:8708620-9180671)x1	ABAT, CARHSP1 +46 more	Copy number loss	See cases	GUncertain significance
Select item 644826	NC_000016.9:g.(?_8829577)_(8875307_?)dup	ABAT	Duplication	Gamma-aminobutyric acid transaminase deficiency	GUncertain significance
Select item 1037121	NM_020686.6(ABAT):c.1A>G (p.Met1Val)	ABAT (M1V)	Single nucleotide variant (missense variant +2 more)	Gamma-aminobutyric acid transaminase deficiency	GUncertain significance
Select item 2674703	NM_020686.6(ABAT):c.4dup (p.Ala2fs)	ABAT (A2fs)	Duplication (frameshift variant +2 more)	Gamma-aminobutyric acid transaminase deficiency	GLikely pathogenic
Select item 2507288	NM_020686.6(ABAT):c.8C>A (p.Ser3Tyr)	ABAT (S3Y)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1555962	NM_020686.6(ABAT):c.13T>C (p.Leu5=)	ABAT	Single nucleotide variant (synonymous variant +1 more)	Gamma-aminobutyric acid transaminase deficiency	GLikely benign
Select item 1500510	NM_020686.6(ABAT):c.14T>G (p.Leu5Trp)	ABAT (L5W)	Single nucleotide variant (missense variant +1 more)	Gamma-aminobutyric acid transaminase deficiency	GUncertain significance
Select item 790934	NM_020686.6(ABAT):c.18C>T (p.Leu6=)	ABAT	Single nucleotide variant (synonymous variant +1 more)	Gamma-aminobutyric acid transaminase deficiency	GLikely benign
Select item 945833	NM_020686.6(ABAT):c.19G>A (p.Ala7Thr)	ABAT (A7T)	Single nucleotide variant (missense variant +1 more)	Gamma-aminobutyric acid transaminase deficiency	GUncertain significance
Select item 2674702	NM_020686.6(ABAT):c.22C>T (p.Gln8Ter)	ABAT (Q8*)	Single nucleotide variant (nonsense +1 more)	Gamma-aminobutyric acid transaminase deficiency	GLikely pathogenic
Select item 460325	NM_020686.6(ABAT):c.25C>T (p.Arg9Cys)	ABAT (R9C)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 320839	NM_020686.6(ABAT):c.26G>A (p.Arg9His)	ABAT (R9H)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 281798	NM_020686.6(ABAT):c.30G>A (p.Leu10=)	ABAT	Single nucleotide variant (synonymous variant +1 more)	Gamma-aminobutyric acid transaminase deficiency +2 more	GBenign/Likely benign
Select item 2780520	NM_020686.6(ABAT):c.36C>T (p.Cys12=)	ABAT	Single nucleotide variant (synonymous variant +1 more)	Gamma-aminobutyric acid transaminase deficiency	GLikely benign
Select item 576904	NM_020686.6(ABAT):c.42C>G (p.Phe14Leu)	ABAT (F14L)	Single nucleotide variant (missense variant +1 more)	Gamma-aminobutyric acid transaminase deficiency	GUncertain significance
Select item 1005042	NM_020686.6(ABAT):c.44A>T (p.Gln15Leu)	ABAT (Q15L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1994659	NM_020686.6(ABAT):c.45G>A (p.Gln15=)	ABAT	Single nucleotide variant (synonymous variant +1 more)	Gamma-aminobutyric acid transaminase deficiency	GLikely benign
Select item 500996	NM_020686.6(ABAT):c.45G>C (p.Gln15His)	ABAT (Q15H)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GUncertain significance
Select item 1451065	NM_020686.6(ABAT):c.55C>A (p.Arg19Ser)	ABAT (R19S)	Single nucleotide variant (missense variant +1 more)	Gamma-aminobutyric acid transaminase deficiency +1 more	GUncertain significance
Select item 235649	NM_020686.6(ABAT):c.55C>T (p.Arg19Cys)	ABAT (R19C)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1376596	NM_020686.6(ABAT):c.56G>T (p.Arg19Leu)	ABAT (R19L)	Single nucleotide variant (missense variant +1 more)	Gamma-aminobutyric acid transaminase deficiency	GUncertain significance
Select item 529790	NM_020686.6(ABAT):c.56G>A (p.Arg19His)	ABAT (R19H)	Single nucleotide variant (missense variant +1 more)	Gamma-aminobutyric acid transaminase deficiency	GUncertain significance
Select item 1572700	NM_020686.6(ABAT):c.57C>T (p.Arg19=)	ABAT	Single nucleotide variant (synonymous variant +1 more)	Gamma-aminobutyric acid transaminase deficiency	GLikely benign
Select item 856565	NM_020686.6(ABAT):c.58C>G (p.Leu20Val)	ABAT (L20V)	Single nucleotide variant (missense variant +1 more)	Gamma-aminobutyric acid transaminase deficiency	GUncertain significance
Select item 1580327	NM_020686.6(ABAT):c.60G>A (p.Leu20=)	ABAT	Single nucleotide variant (synonymous variant +1 more)	Gamma-aminobutyric acid transaminase deficiency	GLikely benign
Select item 2012534	NM_020686.6(ABAT):c.61C>G (p.Leu21Val)	ABAT (L21V)	Single nucleotide variant (missense variant +1 more)	Gamma-aminobutyric acid transaminase deficiency	GUncertain significance
Select item 662161	NM_020686.6(ABAT):c.64_66del (p.Val22del)	ABAT (V22del)	Deletion (inframe_deletion +1 more)	Gamma-aminobutyric acid transaminase deficiency	GUncertain significance
Select item 1443124	NM_020686.6(ABAT):c.64G>C (p.Val22Leu)	ABAT (V22L)	Single nucleotide variant (missense variant +1 more)	Gamma-aminobutyric acid transaminase deficiency	GUncertain significance
Select item 2012269	NM_020686.6(ABAT):c.65T>A (p.Val22Glu)	ABAT (V22E)	Single nucleotide variant (missense variant +1 more)	Gamma-aminobutyric acid transaminase deficiency	GUncertain significance
Select item 2075699	NM_020686.6(ABAT):c.66G>A (p.Val22=)	ABAT	Single nucleotide variant (synonymous variant +1 more)	Gamma-aminobutyric acid transaminase deficiency	GLikely benign
Select item 1010607	NM_020686.6(ABAT):c.68C>A (p.Pro23His)	ABAT (P23H)	Single nucleotide variant (missense variant +1 more)	Gamma-aminobutyric acid transaminase deficiency	GUncertain significance
Select item 2132192	NM_020686.6(ABAT):c.70G>A (p.Gly24Arg)	ABAT (G24R +1 more)	Single nucleotide variant (missense variant +1 more)	Gamma-aminobutyric acid transaminase deficiency	GUncertain significance
Select item 2106605	NM_020686.6(ABAT):c.70+9dup	ABAT	Duplication (intron variant)	Gamma-aminobutyric acid transaminase deficiency	GBenign
Select item 2180717	NM_020686.6(ABAT):c.70+9del	ABAT	Deletion (intron variant)	Gamma-aminobutyric acid transaminase deficiency	GBenign
Select item 1350834	NM_020686.6(ABAT):c.70+6C>A	ABAT	Single nucleotide variant (intron variant)	Gamma-aminobutyric acid transaminase deficiency	GUncertain significance
Select item 758059	NM_020686.6(ABAT):c.70+7C>T	ABAT	Single nucleotide variant (intron variant)	Gamma-aminobutyric acid transaminase deficiency	GLikely benign
Select item 2908514	NM_020686.6(ABAT):c.70+9C>G	ABAT	Single nucleotide variant (intron variant)	Gamma-aminobutyric acid transaminase deficiency	GLikely benign
Select item 529794	NM_020686.6(ABAT):c.70+9C>T	ABAT	Single nucleotide variant (intron variant)	Gamma-aminobutyric acid transaminase deficiency	GLikely benign
Select item 460328	NM_020686.6(ABAT):c.70+10G>A	ABAT	Single nucleotide variant (intron variant)	Gamma-aminobutyric acid transaminase deficiency	GLikely benign
Select item 1621584	NM_020686.6(ABAT):c.70+12G>A	ABAT	Single nucleotide variant (intron variant)	Gamma-aminobutyric acid transaminase deficiency	GLikely benign
Select item 2895656	NM_020686.6(ABAT):c.70+13G>C	ABAT	Single nucleotide variant (intron variant)	Gamma-aminobutyric acid transaminase deficiency	GLikely benign
Select item 1606506	NM_020686.6(ABAT):c.70+13G>T	ABAT	Single nucleotide variant (intron variant)	Gamma-aminobutyric acid transaminase deficiency	GLikely benign
Select item 2816333	NM_020686.6(ABAT):c.70+14G>A	ABAT	Single nucleotide variant (intron variant)	Gamma-aminobutyric acid transaminase deficiency	GLikely benign
Select item 2056399	NM_020686.6(ABAT):c.70+16C>T	ABAT	Single nucleotide variant (intron variant)	Gamma-aminobutyric acid transaminase deficiency	GLikely benign
Select item 1557962	NM_020686.6(ABAT):c.70+20A>C	ABAT	Single nucleotide variant (intron variant)	Gamma-aminobutyric acid transaminase deficiency	GLikely benign
Select item 1185352	NM_020686.6(ABAT):c.70+49T>C	ABAT	Single nucleotide variant (intron variant)	Gamma-aminobutyric acid transaminase deficiency +1 more	GBenign
Select item 1557682	NM_020686.6(ABAT):c.71-19T>C	ABAT	Single nucleotide variant (intron variant)	Gamma-aminobutyric acid transaminase deficiency	GLikely benign
Select item 1616406	NM_020686.6(ABAT):c.71-12del	ABAT	Deletion (intron variant)	Gamma-aminobutyric acid transaminase deficiency	GLikely benign
Select item 2901000	NM_020686.6(ABAT):c.71-10T>C	ABAT	Single nucleotide variant (intron variant)	Gamma-aminobutyric acid transaminase deficiency	GLikely benign
Select item 2732706	NM_020686.6(ABAT):c.71-4G>A	ABAT	Single nucleotide variant (intron variant)	Gamma-aminobutyric acid transaminase deficiency	GLikely benign
Select item 1942502	NM_020686.6(ABAT):c.74C>G (p.Ser25Cys)	ABAT (S25C)	Single nucleotide variant (missense variant +2 more)	Gamma-aminobutyric acid transaminase deficiency	GUncertain significance
Select item 1490443	NM_020686.6(ABAT):c.77G>C (p.Arg26Thr)	ABAT (R26T)	Single nucleotide variant (missense variant +2 more)	Gamma-aminobutyric acid transaminase deficiency	GUncertain significance
Select item 2010296	NM_020686.6(ABAT):c.79C>A (p.His27Asn)	ABAT (H27N)	Single nucleotide variant (missense variant +2 more)	Gamma-aminobutyric acid transaminase deficiency	GUncertain significance
Select item 1139877	NM_020686.6(ABAT):c.96A>C (p.Ala32=)	ABAT	Single nucleotide variant (synonymous variant +2 more)	Gamma-aminobutyric acid transaminase deficiency	GLikely benign
Select item 1970555	NM_020686.6(ABAT):c.102A>C (p.Lys34Asn)	ABAT (K34N)	Single nucleotide variant (missense variant +2 more)	Gamma-aminobutyric acid transaminase deficiency	GUncertain significance
Select item 1386323	NM_020686.6(ABAT):c.106G>A (p.Asp36Asn)	ABAT (D36N)	Single nucleotide variant (missense variant +2 more)	Gamma-aminobutyric acid transaminase deficiency	GUncertain significance
Select item 1636539	NM_020686.6(ABAT):c.108C>T (p.Asp36=)	ABAT	Single nucleotide variant (synonymous variant +2 more)	Gamma-aminobutyric acid transaminase deficiency	GLikely benign
Select item 952286	NM_020686.6(ABAT):c.108C>A (p.Asp36Glu)	ABAT (D36E)	Single nucleotide variant (missense variant +2 more)	Gamma-aminobutyric acid transaminase deficiency	GUncertain significance
Select item 500579	NM_020686.6(ABAT):c.109G>A (p.Val37Ile)	ABAT (V37I)	Single nucleotide variant (missense variant +2 more)	not provided +2 more	GUncertain significance
Select item 1391573	NM_020686.6(ABAT):c.110T>C (p.Val37Ala)	ABAT (V37A)	Single nucleotide variant (missense variant +2 more)	Gamma-aminobutyric acid transaminase deficiency	GUncertain significance
Select item 501382	NM_020686.6(ABAT):c.110T>G (p.Val37Gly)	ABAT (V37G)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 3076585	NM_020686.6(ABAT):c.122A>C (p.Tyr41Ser)	ABAT (Y41S)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 320840	NM_020686.6(ABAT):c.129G>A (p.Gly43=)	ABAT	Single nucleotide variant (synonymous variant +2 more)	Gamma-aminobutyric acid transaminase deficiency +1 more	GBenign
Select item 2043617	NM_020686.6(ABAT):c.135G>A (p.Leu45=)	ABAT	Single nucleotide variant (synonymous variant +2 more)	Gamma-aminobutyric acid transaminase deficiency	GLikely benign
Select item 2069324	NM_020686.6(ABAT):c.143C>T (p.Thr48Met)	ABAT (T48M +1 more)	Single nucleotide variant (missense variant +1 more)	Gamma-aminobutyric acid transaminase deficiency	GUncertain significance
Select item 1594466	NM_020686.6(ABAT):c.144G>A (p.Thr48=)	ABAT	Single nucleotide variant (synonymous variant +1 more)	Gamma-aminobutyric acid transaminase deficiency	GLikely benign
Select item 1137913	NM_020686.6(ABAT):c.144G>T (p.Thr48=)	ABAT	Single nucleotide variant (synonymous variant +1 more)	Gamma-aminobutyric acid transaminase deficiency	GLikely benign
Select item 2680108	NM_020686.6(ABAT):c.145G>T (p.Glu49Ter)	ABAT (E4* +1 more)	Single nucleotide variant (nonsense +1 more)	Gamma-aminobutyric acid transaminase deficiency	GLikely pathogenic
Select item 1130190	NM_020686.6(ABAT):c.150C>T (p.Val50=)	ABAT	Single nucleotide variant (synonymous variant +1 more)	Gamma-aminobutyric acid transaminase deficiency	GLikely benign
Select item 1085337	NM_020686.6(ABAT):c.153A>C (p.Pro51=)	ABAT	Single nucleotide variant (synonymous variant +1 more)	Gamma-aminobutyric acid transaminase deficiency	GLikely benign
Select item 1585945	NM_020686.6(ABAT):c.156G>A (p.Gly52=)	ABAT	Single nucleotide variant (synonymous variant +1 more)	Gamma-aminobutyric acid transaminase deficiency	GLikely benign
Select item 386204	NM_020686.6(ABAT):c.158C>T (p.Pro53Leu)	ABAT (P53L +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 1162786	NM_020686.6(ABAT):c.163T>C (p.Ser55Pro)	ABAT (S10P +1 more)	Single nucleotide variant (missense variant +1 more)	Gamma-aminobutyric acid transaminase deficiency +1 more	GUncertain significance
Select item 320841	NM_020686.6(ABAT):c.167A>G (p.Gln56Arg)	ABAT (Q56R +1 more)	Single nucleotide variant (missense variant +1 more)	Gamma-aminobutyric acid transaminase deficiency +1 more	GBenign
Select item 635252	NM_020686.6(ABAT):c.168+1G>A	ABAT	Single nucleotide variant (splice donor variant +1 more)	Gamma-aminobutyric acid transaminase deficiency	GPathogenic
Select item 933448	NM_020686.6(ABAT):c.168+3G>A	ABAT	Single nucleotide variant (intron variant)	Gamma-aminobutyric acid transaminase deficiency	GUncertain significance
Select item 1482060	NM_020686.6(ABAT):c.168+5G>T	ABAT	Single nucleotide variant (intron variant)	Gamma-aminobutyric acid transaminase deficiency	GUncertain significance
Select item 857056	NM_020686.6(ABAT):c.168+6T>A	ABAT	Single nucleotide variant (intron variant)	Gamma-aminobutyric acid transaminase deficiency	GUncertain significance
Select item 320842	NM_020686.6(ABAT):c.168+12A>G	ABAT	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 885529	NM_020686.6(ABAT):c.168+13C>T	ABAT	Single nucleotide variant (intron variant)	Gamma-aminobutyric acid transaminase deficiency	GConflicting classifications of pathogenicity
Select item 2032461	NM_020686.6(ABAT):c.168+18G>C	ABAT	Single nucleotide variant (intron variant)	Gamma-aminobutyric acid transaminase deficiency	GLikely benign
Select item 1927131	NM_020686.6(ABAT):c.168+20G>T	ABAT	Single nucleotide variant (intron variant)	Gamma-aminobutyric acid transaminase deficiency	GLikely benign
Select item 1558133	NM_020686.6(ABAT):c.169-14_169-12del	ABAT	Microsatellite (intron variant)	Gamma-aminobutyric acid transaminase deficiency	GLikely benign
Select item 1124424	NM_020686.6(ABAT):c.169-13T>A	ABAT	Single nucleotide variant (intron variant)	Gamma-aminobutyric acid transaminase deficiency	GLikely benign
Select item 1588524	NM_020686.6(ABAT):c.169-8G>C	ABAT	Single nucleotide variant (intron variant)	Gamma-aminobutyric acid transaminase deficiency	GLikely benign
Select item 593182	NM_020686.6(ABAT):c.169-6C>T	ABAT	Single nucleotide variant (intron variant)	Gamma-aminobutyric acid transaminase deficiency +1 more	GConflicting classifications of pathogenicity
Select item 2089640	NM_020686.6(ABAT):c.169-5T>A	ABAT	Single nucleotide variant (intron variant)	Gamma-aminobutyric acid transaminase deficiency	GUncertain significance
Select item 1649704	NM_020686.6(ABAT):c.169-5_169-4inv	ABAT	Inversion (intron variant)	Gamma-aminobutyric acid transaminase deficiency	GLikely benign

<< First< Prev

Page of 9