Related gene-specific medical variations for Gene (Select 23218) - ClinVar

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Items: 21

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3362502	NM_015175.3(NBEAL2):c.6914A>G (p.Tyr2305Cys)	NBEAL2 (Y2271C +1 more)	Single nucleotide variant (missense variant)	Gray platelet syndrome	GUncertain significance
Select item 3065337	NM_015175.3(NBEAL2):c.6514C>T (p.Arg2172Cys)	NBEAL2 (R2138C +1 more)	Single nucleotide variant (missense variant)	Gray platelet syndrome	GLikely pathogenic
Select item 3065209	NM_015175.3(NBEAL2):c.5972T>C (p.Phe1991Ser)	NBEAL2 (F1957S +1 more)	Single nucleotide variant (missense variant)	Gray platelet syndrome	GUncertain significance
Select item 2582769	NM_015175.3(NBEAL2):c.37C>T (p.Leu13Phe)	CCDC12, NBEAL2 (L13F)	Single nucleotide variant (missense variant +1 more)	Gray platelet syndrome	GUncertain significance
Select item 2582726	NM_015175.3(NBEAL2):c.7585T>C (p.Trp2529Arg)	NBEAL2 (W2495R +1 more)	Single nucleotide variant (missense variant)	Gray platelet syndrome	GUncertain significance
Select item 2434065	NM_015175.3(NBEAL2):c.6753G>A (p.Pro2251=)	NBEAL2	Single nucleotide variant (synonymous variant)	Gray platelet syndrome	GUncertain significance
Select item 2429388	NM_015175.3(NBEAL2):c.5301+1G>A	NBEAL2	Single nucleotide variant (splice donor variant)	not provided	GPathogenic
Select item 1679805	NM_015175.3(NBEAL2):c.368C>G (p.Pro123Arg)	NBEAL2 (P116R +1 more)	Single nucleotide variant (missense variant)	Gray platelet syndrome	GUncertain significance
Select item 988840	NM_015175.3(NBEAL2):c.5866G>A (p.Val1956Met)	NBEAL2 (V1922M +1 more)	Single nucleotide variant (missense variant)	Abnormal bleeding +1 more	GUncertain significance
Select item 988824	NM_015175.3(NBEAL2):c.6801+1G>C	NBEAL2	Single nucleotide variant (splice donor variant)	Thrombocytopenia +1 more	GPathogenic
Select item 899580	NM_015175.3(NBEAL2):c.-120C>G	CCDC12, NBEAL2	Single nucleotide variant (5 prime UTR variant +1 more)	Gray platelet syndrome	GUncertain significance
Select item 899579	NM_015175.3(NBEAL2):c.-178G>A	CCDC12, NBEAL2	Single nucleotide variant (5 prime UTR variant +1 more)	Gray platelet syndrome	GUncertain significance
Select item 809478	NM_015175.3(NBEAL2):c.7566G>C (p.Arg2522=)	NBEAL2	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 809476	NM_015175.3(NBEAL2):c.474-4C>A	NBEAL2	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 804437	NM_015175.3(NBEAL2):c.7225-1G>C	NBEAL2	Single nucleotide variant (splice acceptor variant)	Gray platelet syndrome	GLikely pathogenic
Select item 753173	NM_015175.3(NBEAL2):c.39C>T (p.Leu13=)	CCDC12, NBEAL2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 345611	NM_015175.3(NBEAL2):c.51+11C>T	CCDC12, NBEAL2	Single nucleotide variant (intron variant)	Gray platelet syndrome	GUncertain significance
Select item 345610	NM_015175.3(NBEAL2):c.-14_-9dup	NBEAL2, CCDC12	Duplication (5 prime UTR variant +1 more)	Gray platelet syndrome	GUncertain significance
Select item 345609	NM_015175.3(NBEAL2):c.-76G>A	CCDC12, NBEAL2	Single nucleotide variant (5 prime UTR variant +1 more)	Gray platelet syndrome	GUncertain significance
Select item 345608	NM_015175.3(NBEAL2):c.-162C>T	CCDC12, NBEAL2	Single nucleotide variant (5 prime UTR variant +1 more)	Gray platelet syndrome	GUncertain significance
Select item 260589	NM_015175.3(NBEAL2):c.6692-47dup	NBEAL2	Duplication (intron variant)	not specified	GBenign

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Links from Gene

Items: 21