"CeGaT Center for Human Genetics Tuebingen"[submitter] AND "ITPR3"[gen - ClinVar

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Items: 21

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2656492	NM_002224.4(ITPR3):c.309A>G (p.Gln103=)	ITPR3	Single nucleotide variant (synonymous variant)	ITPR3-related condition +1 more	GBenign/Likely benign
Select item 2656493	NM_002224.4(ITPR3):c.534C>T (p.Val178=)	ITPR3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2656494	NM_002224.4(ITPR3):c.1409+8_1409+23del	ITPR3	Deletion (intron variant)	ITPR3-related condition +1 more	GLikely benign
Select item 2656495	NM_002224.4(ITPR3):c.1551+4C>T	ITPR3	Single nucleotide variant (intron variant)	ITPR3-related condition +1 more	GBenign
Select item 2656496	NM_002224.4(ITPR3):c.1886+8C>T	ITPR3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 717152	NM_002224.4(ITPR3):c.2586+8G>T	ITPR3	Single nucleotide variant (intron variant)	ITPR3-related condition +1 more	GBenign/Likely benign
Select item 712371	NM_002224.4(ITPR3):c.3048C>T (p.Phe1016=)	ITPR3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 872014	NM_002224.4(ITPR3):c.3283-1G>A	ITPR3	Single nucleotide variant (splice acceptor variant)	not provided	GUncertain significance
Select item 2656497	NM_002224.4(ITPR3):c.3391A>C (p.Lys1131Gln)	ITPR3 (K1131Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2656498	NM_002224.4(ITPR3):c.3987T>C (p.Gly1329=)	ITPR3	Single nucleotide variant (synonymous variant)	ITPR3-related condition +1 more	GLikely benign
Select item 2345476	NM_002224.4(ITPR3):c.4218C>G (p.Ile1406Met)	ITPR3 (I1406M)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 733139	NM_002224.4(ITPR3):c.4317G>A (p.Thr1439=)	ITPR3	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 547000	NM_002224.4(ITPR3):c.4402G>A (p.Val1468Met)	ITPR3 (V1468M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2656499	NM_002224.4(ITPR3):c.5213G>A (p.Cys1738Tyr)	ITPR3 (C1738Y)	Single nucleotide variant (missense variant)	ITPR3-related condition +1 more	GLikely benign
Select item 2656500	NM_002224.4(ITPR3):c.5382G>A (p.Lys1794=)	ITPR3	Single nucleotide variant (synonymous variant)	ITPR3-related condition +1 more	GBenign/Likely benign
Select item 3026215	NM_002224.4(ITPR3):c.5560G>A (p.Val1854Met)	ITPR3 (V1854M)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2656501	NM_002224.4(ITPR3):c.6126G>A (p.Ser2042=)	ITPR3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 809923	NM_002224.4(ITPR3):c.6159C>T (p.Ile2053=)	ITPR3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2656502	NM_002224.4(ITPR3):c.6576G>A (p.Pro2192=)	ITPR3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2578999	NM_002224.4(ITPR3):c.7802G>A (p.Trp2601Ter)	ITPR3, LOC126859658 (W2601*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 3025804	NM_002224.4(ITPR3):c.7975C>T (p.Arg2659Cys)	ITPR3 (R2659C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

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Items: 21