2906[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59115	GRCh38/hg38 19q13.32-13.33(chr19:46658791-49050450)x3	LOC130064822, LOC130064823 +290 more	Copy number gain	See cases	GPathogenic
Select item 59116	GRCh38/hg38 19q13.33-13.43(chr19:47908540-58539965)x3	LOC130064925, LOC130064926 +1081 more	Copy number gain	See cases	GPathogenic
Select item 59117	GRCh38/hg38 19q13.33-13.43(chr19:47929575-58572206)x3	LOC130064903, LOC130064904 +1093 more	Copy number gain	See cases	GPathogenic
Select item 1310137	NM_000836.4(GRIN2D):c.3G>C (p.Met1Ile)	GRIN2D (M1I)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2584945	NM_000836.4(GRIN2D):c.4C>A (p.Arg2Ser)	GRIN2D (R2S)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1517040	NM_000836.4(GRIN2D):c.7G>A (p.Gly3Ser)	GRIN2D (G3S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1906055	NM_000836.4(GRIN2D):c.12C>A (p.Ala4=)	GRIN2D	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2730692	NM_000836.4(GRIN2D):c.13G>A (p.Gly5Ser)	GRIN2D (G5S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1443860	NM_000836.4(GRIN2D):c.13G>T (p.Gly5Cys)	GRIN2D (G5C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2575834	NM_000836.4(GRIN2D):c.21_29del (p.8RGP[1])	GRIN2D	Deletion (inframe_deletion)	not provided	GUncertain significance
Select item 2098612	NM_000836.4(GRIN2D):c.22C>A (p.Arg8Ser)	GRIN2D (R8S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1998089	NM_000836.4(GRIN2D):c.25G>A (p.Gly9Ser)	GRIN2D (G9S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1412827	NM_000836.4(GRIN2D):c.30_38del (p.8RGP[1])	GRIN2D	Deletion (inframe_deletion)	not provided	GUncertain significance
Select item 3282781	NM_000836.4(GRIN2D):c.28C>A (p.Pro10Thr)	GRIN2D (P10T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3102502	NM_000836.4(GRIN2D):c.29C>T (p.Pro10Leu)	GRIN2D (P10L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2816148	NM_000836.4(GRIN2D):c.33G>A (p.Arg11=)	GRIN2D	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2784537	NM_000836.4(GRIN2D):c.34G>A (p.Gly12Ser)	GRIN2D (G12S)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2867712	NM_000836.4(GRIN2D):c.45G>A (p.Lys15=)	GRIN2D	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1481276	NM_000836.4(GRIN2D):c.49CTG[5] (p.Leu20dup)	GRIN2D	Microsatellite (inframe_insertion)	not provided +1 more	GUncertain significance
Select item 2998915	NM_000836.4(GRIN2D):c.60G>A (p.Leu20=)	GRIN2D	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3041310	NM_000836.4(GRIN2D):c.65T>A (p.Leu22Gln)	GRIN2D (L22Q)	Single nucleotide variant (missense variant)	GRIN2D-related disorder	GLikely benign
Select item 2994627	NM_000836.4(GRIN2D):c.69C>G (p.Ala23=)	GRIN2D	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 3042328	NM_000836.4(GRIN2D):c.70T>A (p.Cys24Ser)	GRIN2D (C24S)	Single nucleotide variant (missense variant)	GRIN2D-related disorder	GLikely benign
Select item 1482759	NM_000836.4(GRIN2D):c.87G>A (p.Pro29=)	GRIN2D	Single nucleotide variant (synonymous variant)	not provided	GConflicting classifications of pathogenicity
Select item 975560	NM_000836.4(GRIN2D):c.88G>A (p.Glu30Lys)	GRIN2D (E30K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2663578	NM_000836.4(GRIN2D):c.107_116dup (p.Gly40fs)	GRIN2D (G40fs)	Duplication (frameshift variant)	not provided	GUncertain significance
Select item 2824084	NM_000836.4(GRIN2D):c.98C>T (p.Pro33Leu)	GRIN2D (P33L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2032174	NM_000836.4(GRIN2D):c.99G>C (p.Pro33=)	GRIN2D	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1559843	NM_000836.4(GRIN2D):c.99G>A (p.Pro33=)	GRIN2D	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2983907	NM_000836.4(GRIN2D):c.102_116del (p.Pro35_Gly39del)	GRIN2D, LOC130064855	Deletion (inframe_deletion)	not provided	GUncertain significance
Select item 2960411	NM_000836.4(GRIN2D):c.101G>A (p.Gly34Glu)	GRIN2D (G34E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1910655	NM_000836.4(GRIN2D):c.102G>A (p.Gly34=)	GRIN2D	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 808606	NM_000836.4(GRIN2D):c.103C>T (p.Pro35Ser)	GRIN2D, LOC130064855 (P35S)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 1524829	NM_000836.4(GRIN2D):c.114_143dup (p.Gly39_Ala48dup)	GRIN2D, LOC130064855	Duplication (inframe_insertion)	not provided	GUncertain significance
Select item 1397097	NM_000836.4(GRIN2D):c.114_143del (p.Gly39_Ala48del)	GRIN2D, LOC130064855	Deletion (inframe_deletion)	not provided	GUncertain significance
Select item 2792451	NM_000836.4(GRIN2D):c.109G>A (p.Gly37Arg)	GRIN2D, LOC130064855 (G37R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2107296	NM_000836.4(GRIN2D):c.120_128dup (p.Gly43_Gly44insProGlyGly)	GRIN2D, LOC130064855	Duplication (inframe_insertion)	not provided	GUncertain significance
Select item 2979405	NM_000836.4(GRIN2D):c.122C>T (p.Pro41Leu)	GRIN2D, LOC130064855 (P41L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2832677	NM_000836.4(GRIN2D):c.122C>G (p.Pro41Arg)	GRIN2D, LOC130064855 (P41R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1460829	NM_000836.4(GRIN2D):c.124G>A (p.Gly42Ser)	GRIN2D, LOC130064855 (G42S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1467998	NM_000836.4(GRIN2D):c.136G>T (p.Gly46Cys)	GRIN2D, LOC130064855 (G46C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1466659	NM_000836.4(GRIN2D):c.139G>T (p.Gly47Trp)	GRIN2D, LOC130064855 (G47W)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2872490	NM_000836.4(GRIN2D):c.141G>T (p.Gly47=)	GRIN2D, LOC130064855	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1559453	NM_000836.4(GRIN2D):c.141G>A (p.Gly47=)	GRIN2D, LOC130064855	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2989884	NM_000836.4(GRIN2D):c.146G>T (p.Arg49Leu)	GRIN2D, LOC130064855 (R49L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2962642	NM_000836.4(GRIN2D):c.150G>A (p.Pro50=)	GRIN2D, LOC130064855	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2637514	NM_000836.4(GRIN2D):c.156C>A (p.Asn52Lys)	GRIN2D, LOC130064855 (N52K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3251287	NM_000836.4(GRIN2D):c.157G>A (p.Val53Met)	GRIN2D, LOC130064855 (V53M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2038363	NM_000836.4(GRIN2D):c.159G>C (p.Val53=)	GRIN2D, LOC130064855	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2833981	NM_000836.4(GRIN2D):c.165C>A (p.Leu55=)	GRIN2D, LOC130064855	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1542636	NM_000836.4(GRIN2D):c.165C>G (p.Leu55=)	GRIN2D, LOC130064855	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2431944	NM_000836.4(GRIN2D):c.181G>C (p.Ala61Pro)	GRIN2D, LOC130064855 (A61P)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 46	GUncertain significance
Select item 1925460	NM_000836.4(GRIN2D):c.183G>C (p.Ala61=)	GRIN2D, LOC130064855	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1398783	NM_000836.4(GRIN2D):c.194_217dup (p.Glu65_Ala72dup)	GRIN2D, LOC130064855	Duplication (inframe_insertion)	not provided	GUncertain significance
Select item 1878582	NM_000836.4(GRIN2D):c.191C>T (p.Ala64Val)	GRIN2D, LOC130064855 (A64V)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 46	GUncertain significance
Select item 1603527	NM_000836.4(GRIN2D):c.192C>G (p.Ala64=)	GRIN2D, LOC130064855	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1491272	NM_000836.4(GRIN2D):c.193G>A (p.Glu65Lys)	GRIN2D, LOC130064855 (E65K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1713915	NM_000836.4(GRIN2D):c.197C>G (p.Ala66Gly)	GRIN2D, LOC130064855 (A66G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3032552	NM_000836.4(GRIN2D):c.198G>C (p.Ala66=)	GRIN2D, LOC130064855	Single nucleotide variant (synonymous variant)	GRIN2D-related disorder	GLikely benign
Select item 1676796	NM_000836.4(GRIN2D):c.199G>A (p.Ala67Thr)	GRIN2D, LOC130064855 (A67T)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 46	GLikely benign
Select item 2831034	NM_000836.4(GRIN2D):c.200C>T (p.Ala67Val)	GRIN2D, LOC130064855 (A67V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3047836	NM_000836.4(GRIN2D):c.204C>T (p.Arg68=)	GRIN2D	Single nucleotide variant (synonymous variant)	GRIN2D-related disorder	GLikely benign
Select item 3036553	NM_000836.4(GRIN2D):c.207G>A (p.Leu69=)	GRIN2D	Single nucleotide variant (synonymous variant)	GRIN2D-related disorder	GLikely benign
Select item 2385202	NM_000836.4(GRIN2D):c.209G>C (p.Gly70Ala)	GRIN2D (G70A)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1956702	NM_000836.4(GRIN2D):c.210C>A (p.Gly70=)	GRIN2D	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1898404	NM_000836.4(GRIN2D):c.213G>A (p.Pro71=)	GRIN2D	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1493963	NM_000836.4(GRIN2D):c.221C>A (p.Ala74Glu)	GRIN2D (A74E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1305331	NM_000836.4(GRIN2D):c.221_226delinsGGGCGA (p.Ala74_Ala76delinsGlyAlaThr)	GRIN2D	Indel (missense variant)	not provided	GUncertain significance
Select item 2611866	NM_000836.4(GRIN2D):c.223G>T (p.Ala75Ser)	GRIN2D (A75S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1677223	NM_000836.4(GRIN2D):c.223G>A (p.Ala75Thr)	GRIN2D (A75T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2611867	NM_000836.4(GRIN2D):c.224C>T (p.Ala75Val)	GRIN2D (A75V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2998834	NM_000836.4(GRIN2D):c.233G>A (p.Arg78His)	GRIN2D (R78H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1629152	NM_000836.4(GRIN2D):c.244C>T (p.Leu82=)	GRIN2D	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1305038	NM_000836.4(GRIN2D):c.250G>C (p.Val84Leu)	GRIN2D (V84L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1954424	NM_000836.4(GRIN2D):c.258C>G (p.Pro86=)	GRIN2D	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2058776	NM_000836.4(GRIN2D):c.259G>A (p.Val87Met)	GRIN2D (V87M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2957450	NM_000836.4(GRIN2D):c.260T>C (p.Val87Ala)	GRIN2D (V87A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1319388	NM_000836.4(GRIN2D):c.263C>T (p.Ala88Val)	GRIN2D (A88V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2974173	NM_000836.4(GRIN2D):c.264G>A (p.Ala88=)	GRIN2D	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1544266	NM_000836.4(GRIN2D):c.267G>T (p.Leu89=)	GRIN2D	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1720786	NM_000836.4(GRIN2D):c.274A>G (p.Asn92Asp)	GRIN2D (N92D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2650198	NM_000836.4(GRIN2D):c.282G>A (p.Ser94=)	GRIN2D	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1569172	NM_000836.4(GRIN2D):c.282G>C (p.Ser94=)	GRIN2D	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3239161	NM_000836.4(GRIN2D):c.288G>A (p.Pro96=)	GRIN2D	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3239521	NM_000836.4(GRIN2D):c.289C>A (p.Arg97Ser)	GRIN2D (R97S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2782425	NM_000836.4(GRIN2D):c.290G>A (p.Arg97His)	GRIN2D (R97H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1923881	NM_000836.4(GRIN2D):c.297C>A (p.Leu99=)	GRIN2D	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1482249	NM_000836.4(GRIN2D):c.298G>C (p.Val100Leu)	GRIN2D (V100L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1804229	NM_000836.4(GRIN2D):c.301C>A (p.Leu101Met)	GRIN2D (L101M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3006472	NM_000836.4(GRIN2D):c.302T>A (p.Leu101Gln)	GRIN2D (L101Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2710259	NM_000836.4(GRIN2D):c.307C>T (p.Leu103Phe)	GRIN2D (L103F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2546551	NM_000836.4(GRIN2D):c.307C>G (p.Leu103Val)	GRIN2D (L103V)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2110780	NM_000836.4(GRIN2D):c.313G>T (p.Asp105Tyr)	GRIN2D (D105Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1663746	NM_000836.4(GRIN2D):c.316C>T (p.Leu106=)	GRIN2D	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2862956	NM_000836.4(GRIN2D):c.321G>A (p.Leu107=)	GRIN2D	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2135647	NM_000836.4(GRIN2D):c.330G>A (p.Leu110=)	GRIN2D	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1722239	NM_000836.4(GRIN2D):c.341G>C (p.Gly114Ala)	GRIN2D (G114A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2110044	NM_000836.4(GRIN2D):c.342C>A (p.Gly114=)	GRIN2D	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1499116	NM_000836.4(GRIN2D):c.344T>C (p.Val115Ala)	GRIN2D (V115A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1940783	NM_000836.4(GRIN2D):c.354A>G (p.Glu118=)	GRIN2D	Single nucleotide variant (synonymous variant)	not provided	GLikely benign

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