ClinVar for Gene (Select 2678) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3291761	NM_207644.3(LRRC75B):c.613T>C (p.Trp205Arg)	GGT1, LRRC75B (W205R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3281320	NM_001288833.2(GGT1):c.1673C>T (p.Ser558Leu)	GGT1 (S558L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3281319	NM_001288833.2(GGT1):c.1364C>T (p.Pro455Leu)	GGT1 (P455L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3281318	NM_001288833.2(GGT1):c.494G>T (p.Arg165Leu)	GGT1 (R165L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3281317	NM_001288833.2(GGT1):c.1352C>T (p.Ser451Leu)	GGT1 (S451L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3281316	NM_001288833.2(GGT1):c.1127C>T (p.Pro376Leu)	GGT1 (P376L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3281315	NM_001288833.2(GGT1):c.1200C>G (p.Ile400Met)	GGT1 (I400M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3281314	NM_001288833.2(GGT1):c.616G>C (p.Glu206Gln)	GGT1 (E206Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3234432	NM_001288833.2(GGT1):c.1062C>T (p.Leu354=)	GGT1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3148953	GRCh37/hg19 22q11.23(chr22:23702548-25008068)x3	ADORA2A, C22orf15 +25 more	Copy number gain	not provided	GUncertain significance
Select item 3148891	GRCh37/hg19 22q11.23(chr22:23652549-25002659)x3	ADORA2A, BCR +26 more	Copy number gain	See cases	GPathogenic
Select item 3120960	NM_207644.3(LRRC75B):c.94G>T (p.Val32Leu)	GGT1, LRRC75B (V32L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3120959	NM_207644.3(LRRC75B):c.862G>A (p.Ala288Thr)	GGT1, LRRC75B (A288T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3120958	NM_207644.3(LRRC75B):c.832G>C (p.Glu278Gln)	GGT1, LRRC75B (E278Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3120957	NM_207644.3(LRRC75B):c.821C>T (p.Pro274Leu)	GGT1, LRRC75B (P274L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3120956	NM_207644.3(LRRC75B):c.691G>T (p.Ala231Ser)	GGT1, LRRC75B (A231S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3120955	NM_207644.3(LRRC75B):c.533A>G (p.His178Arg)	GGT1, LRRC75B (H178R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3120954	NM_207644.3(LRRC75B):c.364A>G (p.Thr122Ala)	GGT1, LRRC75B (T122A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3120952	NM_207644.3(LRRC75B):c.242C>A (p.Pro81Gln)	GGT1, LRRC75B (P81Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3120951	NM_207644.3(LRRC75B):c.142G>C (p.Glu48Gln)	GGT1, LRRC75B (E48Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3120950	NM_207644.3(LRRC75B):c.142G>A (p.Glu48Lys)	GGT1, LRRC75B (E48K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3120949	NM_207644.3(LRRC75B):c.109G>A (p.Glu37Lys)	GGT1, LRRC75B (E37K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3099636	NM_001288833.2(GGT1):c.770G>A (p.Arg257His)	GGT1 (R257H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3099635	NM_001288833.2(GGT1):c.728C>T (p.Ala243Val)	GGT1 (A243V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3099634	NM_001288833.2(GGT1):c.545G>A (p.Arg182Gln)	GGT1 (R182Q)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3099633	NM_001288833.2(GGT1):c.1591C>G (p.His531Asp)	GGT1 (H531D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3099632	NM_001288833.2(GGT1):c.1534G>A (p.Val512Ile)	GGT1 (V512I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3099631	NM_001288833.2(GGT1):c.1495G>T (p.Val499Leu)	GGT1 (V499L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3099630	NM_001288833.2(GGT1):c.1483G>A (p.Val495Met)	GGT1 (V495M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3099627	NM_001288833.2(GGT1):c.1186G>A (p.Ala396Thr)	GGT1 (A396T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3099626	NM_001288833.2(GGT1):c.1094C>G (p.Pro365Arg)	GGT1 (P365R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3099625	NM_001288833.2(GGT1):c.1042G>A (p.Glu348Lys)	GGT1 (E348K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3099624	NM_001288833.2(GGT1):c.1027C>T (p.Arg343Cys)	GGT1 (R343C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2684934	GRCh37/hg19 22q11.23(chr22:25020048-25368329)x3	GGT1, LHFPL7 +2 more	Copy number gain	not provided	GUncertain significance
Select item 2684933	GRCh37/hg19 22q11.23(chr22:23690388-25066472)x3	ADORA2A, C22orf15 +25 more	Copy number gain	not provided	GPathogenic
Select item 2672922	GRCh37/hg19 22q11.22-11.23(chr22:22989453-25019883)x3	ADORA2A, BCR +32 more	Copy number gain	not provided	GLikely pathogenic
Select item 2672900	NM_001288833.2(GGT1):c.154A>G (p.Lys52Glu)	GGT1 (K52E)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2653000	NM_207644.3(LRRC75B):c.921C>T (p.Pro307=)	GGT1, LRRC75B	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2620264	NM_001288833.2(GGT1):c.1460A>T (p.Tyr487Phe)	GGT1 (Y487F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2618095	NM_001288833.2(GGT1):c.721A>G (p.Ile241Val)	GGT1 (I241V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2614409	NM_001288833.2(GGT1):c.1359G>A (p.Met453Ile)	GGT1 (M453I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2596177	NM_001288833.2(GGT1):c.1279C>T (p.Pro427Ser)	GGT1 (P427S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2593475	NM_001288833.2(GGT1):c.133G>A (p.Ala45Thr)	GGT1 (A45T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2580295	GRCh37/hg19 22q11.23(chr22:23658260-25114888)x3	ADORA2A, BCR +26 more	Copy number gain	Chromosome 22q11.2 microduplication syndrome	GPathogenic
Select item 2556499	NM_207644.3(LRRC75B):c.372C>G (p.His124Gln)	GGT1, LRRC75B (H124Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2543514	NM_001288833.2(GGT1):c.1642G>C (p.Val548Leu)	GGT1 (V548L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2533983	NM_207644.3(LRRC75B):c.232T>A (p.Phe78Ile)	GGT1, LRRC75B (F78I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2496516	NM_001288833.2(GGT1):c.545G>C (p.Arg182Pro)	GGT1 (R182P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2483677	NM_001288833.2(GGT1):c.325G>T (p.Val109Leu)	GGT1 (V109L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2479948	NM_207644.3(LRRC75B):c.85G>A (p.Glu29Lys)	GGT1, LRRC75B (E29K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2478786	NM_207644.3(LRRC75B):c.365C>T (p.Thr122Ile)	GGT1, LRRC75B (T122I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2473376	NM_001288833.2(GGT1):c.656C>T (p.Thr219Met)	GGT1 (T219M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2409603	NM_001288833.2(GGT1):c.1225C>T (p.Arg409Cys)	GGT1 (R409C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2403531	NM_001288833.2(GGT1):c.1357A>G (p.Met453Val)	GGT1 (M453V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2393236	NM_001288833.2(GGT1):c.950T>C (p.Val317Ala)	GGT1 (V317A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2378527	NM_001288833.2(GGT1):c.185G>C (p.Gly62Ala)	GGT1 (G62A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2375645	NM_001288833.2(GGT1):c.1294G>A (p.Glu432Lys)	GGT1 (E432K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2375488	NM_001288833.2(GGT1):c.923A>G (p.Gln308Arg)	GGT1 (Q308R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2368092	NM_207644.3(LRRC75B):c.431G>C (p.Ser144Thr)	GGT1, LRRC75B (S144T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2366471	NM_207644.3(LRRC75B):c.626G>A (p.Arg209His)	GGT1, LRRC75B (R209H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2354983	NM_207644.3(LRRC75B):c.571G>C (p.Gly191Arg)	GGT1, LRRC75B (G191R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2353882	NM_207644.3(LRRC75B):c.235C>G (p.Leu79Val)	GGT1, LRRC75B (L79V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2348871	NM_207644.3(LRRC75B):c.656G>A (p.Arg219Gln)	GGT1, LRRC75B (R219Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2347196	NM_207644.3(LRRC75B):c.400C>T (p.Arg134Cys)	GGT1, LRRC75B (R134C)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2336783	NM_207644.3(LRRC75B):c.807G>C (p.Gln269His)	GGT1, LRRC75B (Q269H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2324927	NM_001288833.2(GGT1):c.15A>T (p.Leu5Phe)	GGT1 (L5F)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2324479	NM_207644.3(LRRC75B):c.844C>A (p.Leu282Ile)	GGT1, LRRC75B (L282I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2323876	NM_001288833.2(GGT1):c.191C>T (p.Ala64Val)	GGT1 (A64V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2316594	NM_001288833.2(GGT1):c.1232C>T (p.Pro411Leu)	GGT1 (P411L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2311955	NM_001288833.2(GGT1):c.1639A>G (p.Ile547Val)	GGT1 (I547V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2308132	NM_207644.3(LRRC75B):c.284G>A (p.Arg95Gln)	GGT1, LRRC75B (R95Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2306696	NM_207644.3(LRRC75B):c.37G>A (p.Ala13Thr)	GGT1, LRRC75B (A13T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2289799	NM_207644.3(LRRC75B):c.106C>T (p.Arg36Cys)	GGT1, LRRC75B (R36C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2285300	NM_001288833.2(GGT1):c.1418G>A (p.Gly473Glu)	GGT1 (G473E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2259807	NM_001288833.2(GGT1):c.1550G>A (p.Arg517Lys)	GGT1 (R517K)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2258986	NM_207644.3(LRRC75B):c.784G>A (p.Gly262Ser)	LRRC75B, GGT1 (G262S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2254423	NM_001288833.2(GGT1):c.782T>C (p.Ile261Thr)	GGT1 (I261T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2254354	NM_207644.3(LRRC75B):c.325T>C (p.Ser109Pro)	GGT1, LRRC75B (S109P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2239529	NM_001288833.2(GGT1):c.86C>T (p.Ala29Val)	GGT1 (A29V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2233857	NM_001288833.2(GGT1):c.944G>A (p.Arg315His)	GGT1 (R315H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2226320	NM_207644.3(LRRC75B):c.502G>A (p.Val168Met)	GGT1, LRRC75B (V168M)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2214310	NM_001288833.2(GGT1):c.1637C>A (p.Ala546Asp)	GGT1 (A546D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1808733	GRCh37/hg19 22q11.22-11.23(chr22:22953515-24995256)x3	ADORA2A, BCR +32 more	Copy number gain	not provided	GLikely pathogenic
Select item 1808567	GRCh37/hg19 22q11.23(chr22:23650872-25002483)x3	ADORA2A, BCR +26 more	Copy number gain	not provided	GLikely pathogenic
Select item 1808423	GRCh37/hg19 22q11.23(chr22:24402263-25447775)x3	ADORA2A, CABIN1 +12 more	Copy number gain	not provided	GUncertain significance
Select item 1808230	GRCh37/hg19 22q11.22-11.23(chr22:22997929-24995256)x3	ADORA2A, BCR +31 more	Copy number gain	not provided	GPathogenic
Select item 1807709	GRCh37/hg19 22q11.23(chr22:23650201-24992266)x3	ADORA2A, BCR +26 more	Copy number gain	not provided	GLikely pathogenic
Select item 1704348	GRCh37/hg19 22q11.23(chr22:23652519-25059631)x3	ADORA2A, BCR +26 more	Copy number gain	Unilateral renal agenesis	GUncertain significance
Select item 1703645	GRCh37/hg19 22q11.21-11.23(chr22:21798906-25039018)	ADORA2A, BCR +50 more	Copy number gain	Chromosome 22q11.2 microduplication syndrome	GPathogenic
Select item 1328446	GRCh37/hg19 22q11.23(chr22:23689960-25000632)x3	DDT, ADORA2A +25 more	Copy number gain	not provided	GUncertain significance
Select item 1294465	NM_001288833.2(GGT1):c.165-145del	GGT1	Deletion (intron variant)	not provided	GBenign
Select item 1294454	NM_001288833.2(GGT1):c.530C>T (p.Ala177Val)	GGT1 (A177V)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1290240	NM_001288833.2(GGT1):c.382+238A>G	GGT1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1290063	NM_001288833.2(GGT1):c.383-254A>G	GGT1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1289175	NM_001288833.2(GGT1):c.296-65T>C	GGT1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1287050	NM_001288833.2(GGT1):c.1337-32C>T	GGT1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1282910	NM_001288833.2(GGT1):c.1021-37T>C	GGT1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1280384	NM_001288833.2(GGT1):c.1021-75A>G	GGT1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1274246	NM_001288833.2(GGT1):c.883+144T>C	GGT1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1273914	NM_001288833.2(GGT1):c.382+175T>C	GGT1	Single nucleotide variant (intron variant)	not provided	GBenign

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