"GeneDx"[submitter] AND "CDIN1"[gene] - ClinVar

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Items: 40

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 57876	GRCh38/hg38 15q13.3-14(chr15:32326136-39394068)x1	LOC132090301, LOC132090302 +178 more	Copy number loss	See cases	GPathogenic
Select item 57877	GRCh38/hg38 15q13.3-15.1(chr15:32635803-40233825)x1	ACTC1, AQR +219 more	Copy number loss	See cases	GPathogenic
Select item 1183952	NC_000015.10:g.36579272C>T	CDIN1	Single nucleotide variant	not provided	GBenign
Select item 1243164	NC_000015.10:g.36579275G>T	CDIN1	Single nucleotide variant	not provided	GBenign
Select item 1294015	NC_000015.10:g.36579408C>T	CDIN1	Single nucleotide variant	not provided	GBenign
Select item 1294026	NC_000015.10:g.36579414G>A	CDIN1	Single nucleotide variant	not provided	GBenign
Select item 1181468	NM_001321759.2(CDIN1):c.-105C>T	CDIN1, LOC130056772	Single nucleotide variant (5 prime UTR variant)	Congenital dyserythropoietic anemia type type 1B +1 more	GBenign
Select item 1309945	NM_001321759.2(CDIN1):c.26A>G (p.Asp9Gly)	CDIN1 (D9G)	Single nucleotide variant (missense variant +1 more)	not provided	GConflicting classifications of pathogenicity
Select item 1244450	NM_001321759.2(CDIN1):c.101+207T>C	CDIN1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1294012	NM_001321759.2(CDIN1):c.147+269C>T	CDIN1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 257531	NM_001321759.2(CDIN1):c.148-19G>T	CDIN1	Single nucleotide variant (intron variant)	not specified +2 more	GBenign
Select item 710471	NM_001321759.2(CDIN1):c.185C>T (p.Ser62Leu)	CDIN1 (S62L)	Single nucleotide variant (missense variant +2 more)	not provided	GLikely benign
Select item 1222423	NM_001321759.2(CDIN1):c.212+118A>C	CDIN1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1267422	NM_001321759.2(CDIN1):c.212+208TG[20]	CDIN1	Microsatellite (intron variant)	not provided	GBenign
Select item 1227638	NM_001321759.2(CDIN1):c.212+208TG[18]	CDIN1	Microsatellite (intron variant)	not provided	GBenign
Select item 1260964	NM_001321759.2(CDIN1):c.213-146G>A	CDIN1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1229252	NM_001321759.2(CDIN1):c.213-123A>G	CDIN1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 257532	NM_001321759.2(CDIN1):c.217C>G (p.Leu73Val)	CDIN1 (L73V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified +2 more	GBenign
Select item 1174457	NM_001321759.2(CDIN1):c.273+82C>T	CDIN1	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1192629	NM_001321759.2(CDIN1):c.274-82T>A	CDIN1	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1272865	NM_001321759.2(CDIN1):c.346+255A>T	CDIN1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 257533	NM_001321759.2(CDIN1):c.423T>C (p.Tyr141=)	CDIN1	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign
Select item 1286359	NM_001321759.2(CDIN1):c.426+26A>G	CDIN1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1183321	NM_001321759.2(CDIN1):c.476+33T>C	CDIN1	Single nucleotide variant (intron variant)	Congenital dyserythropoietic anemia type type 1B +1 more	GBenign
Select item 1227855	NM_001321759.2(CDIN1):c.477-294G>T	CDIN1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1297953	NM_001321759.2(CDIN1):c.477-184del	CDIN1	Deletion (intron variant)	not provided	GBenign
Select item 1192630	NM_001321759.2(CDIN1):c.477-55G>A	CDIN1	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1260084	NM_001321759.2(CDIN1):c.545-237G>T	CDIN1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2081781	NM_001321759.2(CDIN1):c.607G>T (p.Val203Phe)	CDIN1 (V105F +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1283986	NM_001321759.2(CDIN1):c.610+256A>T	CDIN1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1279230	NM_001321759.2(CDIN1):c.611-255C>T	CDIN1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1265685	NM_001321759.2(CDIN1):c.611-224A>G	CDIN1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1272522	NM_001321759.2(CDIN1):c.611-170G>C	CDIN1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1287161	NM_001321759.2(CDIN1):c.716+36711_716+36712insGC	CDIN1	Insertion (intron variant)	not provided	GBenign
Select item 1266815	NM_001321759.2(CDIN1):c.716+36816dup	CDIN1	Duplication (intron variant)	not provided	GBenign
Select item 1226386	NM_001321759.2(CDIN1):c.716+36816del	CDIN1	Deletion (intron variant)	not provided	GBenign
Select item 1230920	NM_001321759.2(CDIN1):c.716+36850G>C	CDIN1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1222874	NM_001321759.2(CDIN1):c.716+36947C>G	CDIN1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1248813	NM_001321759.2(CDIN1):c.716+37023A>C	CDIN1 (S256R)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 1307698	NM_001321759.2(CDIN1):c.723del (p.Pro242fs)	CDIN1 (G206fs +5 more)	Deletion (frameshift variant)	not provided	GUncertain significance

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Items: 40