2550[geneid] - ClinVar

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Items: 73

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155430	GRCh38/hg38 6p25.3-12.3(chr6:156974-46789291)x3	ILRUN-AS1, IP6K3 +2582 more	Copy number gain	See cases	GPathogenic
Select item 150044	GRCh38/hg38 6p25.2-21.33(chr6:3224310-30657190)x3	ABCF1, ABT1 +1340 more	Copy number gain	See cases	GPathogenic
Select item 153490	GRCh38/hg38 6p22.1(chr6:28763187-29769828)x3	GABBR1, HCG14 +61 more	Copy number gain	See cases	GUncertain significance
Select item 3097792	NM_001470.4(GABBR1):c.2864G>A (p.Arg955Gln)	GABBR1 (R893Q +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2285671	NM_001470.4(GABBR1):c.2843G>A (p.Arg948Gln)	GABBR1 (R771Q +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2221410	NM_001470.4(GABBR1):c.2839G>A (p.Asp947Asn)	GABBR1 (D770N +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1684755	NM_001470.4(GABBR1):c.2830G>A (p.Glu944Lys)	GABBR1 (E767K +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2271268	NM_001470.4(GABBR1):c.2825C>T (p.Pro942Leu)	GABBR1 (P765L +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2493173	NM_001470.4(GABBR1):c.2773C>T (p.Arg925Trp)	GABBR1 (R925W +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2265179	NM_001470.4(GABBR1):c.2764C>T (p.Leu922Phe)	GABBR1 (L745F +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2265178	NM_001470.4(GABBR1):c.2763G>T (p.Gln921His)	GABBR1 (Q804H +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2375211	NM_001470.4(GABBR1):c.2704A>G (p.Ile902Val)	GABBR1 (I725V +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 745061	NM_001470.4(GABBR1):c.2649C>T (p.Asn883=)	GABBR1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2446609	NM_001470.4(GABBR1):c.2631dup (p.Ser878fs)	GABBR1 (S701fs +3 more)	Duplication (frameshift variant)	not provided	GUncertain significance
Select item 747408	NM_001470.4(GABBR1):c.2610G>A (p.Ala870=)	GABBR1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2481296	NM_001470.4(GABBR1):c.2581A>T (p.Ile861Phe)	GABBR1 (I684F +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2614467	NM_001470.4(GABBR1):c.2408G>A (p.Arg803Gln)	GABBR1 (R803Q +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2306202	NM_001470.4(GABBR1):c.2407C>T (p.Arg803Trp)	GABBR1 (R626W +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3280378	NM_001470.4(GABBR1):c.2270A>G (p.Gln757Arg)	GABBR1 (Q695R +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3097791	NM_001470.4(GABBR1):c.2203C>T (p.His735Tyr)	GABBR1 (H618Y +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3097790	NM_001470.4(GABBR1):c.2177C>T (p.Ala726Val)	GABBR1 (A549V +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3097789	NM_001470.4(GABBR1):c.2134G>A (p.Ala712Thr)	GABBR1 (A650T +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1804154	NM_001470.4(GABBR1):c.2018G>A (p.Gly673Asp)	GABBR1 (G496D +3 more)	Single nucleotide variant (missense variant)	Global developmental delay +2 more	GLikely pathogenic
Select item 3097788	NM_001470.4(GABBR1):c.1970A>G (p.Asn657Ser)	GABBR1 (N480S +3 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2367455	NM_001470.4(GABBR1):c.1963G>A (p.Gly655Arg)	GABBR1 (G655R +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2217108	NM_001470.4(GABBR1):c.1958A>T (p.His653Leu)	GABBR1 (H476L +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 728611	NM_001470.4(GABBR1):c.1933T>C (p.Phe645Leu)	GABBR1 (F583L +3 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2576621	NM_001470.4(GABBR1):c.1901C>T (p.Ala634Val)	GABBR1 (A457V +3 more)	Single nucleotide variant (missense variant)	GABBR1-associated neurodevelopmental disorder	GUncertain significance
Select item 2609381	NM_001470.4(GABBR1):c.1862A>T (p.Tyr621Phe)	GABBR1 (Y444F +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2288115	NM_001470.4(GABBR1):c.1783G>A (p.Val595Ile)	GABBR1 (V418I +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 737580	NM_001470.4(GABBR1):c.1611G>A (p.Thr537=)	GABBR1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1804152	NM_001470.4(GABBR1):c.1603G>A (p.Ala535Thr)	GABBR1 (A358T +3 more)	Single nucleotide variant (missense variant)	Global developmental delay +2 more	GLikely pathogenic
Select item 2538103	NM_001470.4(GABBR1):c.1561G>A (p.Val521Ile)	GABBR1 (V344I +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2527344	NM_001470.4(GABBR1):c.1531C>G (p.Arg511Gly)	GABBR1 (R334G +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1339834	NM_001470.4(GABBR1):c.1477G>C (p.Val493Leu)	GABBR1 (V316L +3 more)	Single nucleotide variant (missense variant)	not provided	Gnot provided
Select item 709577	NM_001470.4(GABBR1):c.1404G>A (p.Pro468=)	GABBR1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2576928	NM_001470.4(GABBR1):c.1356del (p.Lys452fs)	GABBR1 (K275fs +3 more)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 1804147	NM_001470.4(GABBR1):c.1190C>T (p.Ala397Val)	GABBR1 (A220V +3 more)	Single nucleotide variant (missense variant)	Global developmental delay +5 more	GLikely pathogenic
Select item 2576652	NM_001470.4(GABBR1):c.1132-1G>A	GABBR1	Single nucleotide variant (splice acceptor variant)	not provided	GUncertain significance
Select item 788098	NM_001470.4(GABBR1):c.1113C>T (p.Ala371=)	GABBR1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1804153	NM_001470.4(GABBR1):c.1104G>C (p.Glu368Asp)	GABBR1 (E191D +3 more)	Single nucleotide variant (missense variant)	Global developmental delay +2 more	GLikely pathogenic
Select item 2502369	NM_001470.4(GABBR1):c.1042G>C (p.Ala348Pro)	GABBR1 (A171P +3 more)	Single nucleotide variant (missense variant)	Neurofibromatosis, type 1	GLikely pathogenic
Select item 756998	NM_001470.4(GABBR1):c.969G>A (p.Leu323=)	GABBR1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 713858	NM_001470.4(GABBR1):c.964-9C>T	GABBR1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2446655	NM_001470.4(GABBR1):c.963G>A (p.Ser321=)	GABBR1	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 756336	NM_001470.4(GABBR1):c.948T>C (p.Thr316=)	GABBR1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 791536	NM_001470.4(GABBR1):c.945C>G (p.Thr315=)	GABBR1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2265999	NM_001470.4(GABBR1):c.913G>A (p.Gly305Ser)	GABBR1 (G128S +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3097795	NM_001470.4(GABBR1):c.889C>T (p.Arg297Cys)	GABBR1 (R180C +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2259524	NM_001470.4(GABBR1):c.620C>G (p.Pro207Arg)	GABBR1 (P207R +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3097794	NM_001470.4(GABBR1):c.607A>G (p.Arg203Gly)	GABBR1 (R26G +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2622506	NM_001470.4(GABBR1):c.485C>T (p.Thr162Met)	GABBR1 (T162M +1 more)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2295970	NM_001470.4(GABBR1):c.425G>A (p.Arg142Gln)	GABBR1 (R142Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 753116	NM_001470.4(GABBR1):c.390G>C (p.Arg130=)	GABBR1	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GLikely benign
Select item 2406878	NM_001470.4(GABBR1):c.370G>A (p.Gly124Arg)	GABBR1 (G124R)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 756531	NM_001470.4(GABBR1):c.369C>T (p.Asp123=)	GABBR1	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GLikely benign
Select item 2398103	NM_001470.4(GABBR1):c.344C>T (p.Thr115Met)	GABBR1 (T115M)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 3236574	NM_001470.4(GABBR1):c.329G>C (p.Gly110Ala)	GABBR1 (G110A)	Single nucleotide variant (5 prime UTR variant +2 more)	Neurodevelopmental disorder with language delay and variable cognitive abnormalities	GUncertain significance
Select item 2312158	NM_001470.4(GABBR1):c.315G>T (p.Leu105Phe)	GABBR1 (L105F)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 3097793	NM_001470.4(GABBR1):c.313T>G (p.Leu105Val)	GABBR1 (L105V)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2560112	NM_001470.4(GABBR1):c.220G>C (p.Val74Leu)	GABBR1 (V74L)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 1684756	NM_001470.4(GABBR1):c.208dup (p.Glu70fs)	GABBR1 (E70fs)	Duplication (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2292485	NM_001470.4(GABBR1):c.206G>A (p.Gly69Glu)	GABBR1 (G69E)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2385562	NM_001470.4(GABBR1):c.92A>G (p.Gln31Arg)	GABBR1 (Q31R)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 708773	NM_001470.4(GABBR1):c.39C>T (p.Arg13=)	GABBR1	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2312323	NM_001470.4(GABBR1):c.37C>T (p.Arg13Cys)	GABBR1 (R13C)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 1807671	GRCh37/hg19 6p22.1(chr6:29162783-30236331)x3	GABBR1, HCG17 +23 more	Copy number gain	not provided	GUncertain significance
Select item 1527231	GRCh37/hg19 6p22.1(chr6:28735761-29585573)	GABBR1, MAS1L +16 more	Copy number loss	not specified	GUncertain significance
Select item 974733	NC_000006.11:g.28005012_31683185del	ABCF1, ABHD16A +106 more	Deletion	Megacolon	GLikely pathogenic
Select item 625706	GRCh37/hg19 6p22.1-q14.1(chr6:29455465-81447367)	ERVH-3, ETV7 +427 more	Copy number gain	not provided	GPathogenic
Select item 443497	GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)	AARS2, ABCC10 +1028 more	Copy number gain	See cases	GPathogenic
Select item 443496	GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)x3	RING1, RIOK1 +1028 more	Copy number gain	See cases	GPathogenic
Select item 1676496	NM_001470.4(GABBR1):c.545G>A (p.Trp182Ter)	GABBR1 (W120* +3 more)	Single nucleotide variant	not provided	GUncertain significance

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Items: 73