LOC130064855[gene] - ClinVar

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Items: 33

	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 2983907	NM_000836.4(GRIN2D):c.102_116del (p.Pro35_Gly39del)	GRIN2D, LOC130064855	Deletion (inframe_deletion)	not provided	GUncertain significance
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

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Items: 33