CDIN1[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 149530	GRCh38/hg38 15q11.2-14(chr15:23319714-38545325)x3	ACTC1, APBA2 +363 more	Copy number gain	See cases	GPathogenic
Select item 146702	GRCh38/hg38 15q11.2-14(chr15:23319714-38089582)x1	ACTC1, APBA2 +346 more	Copy number loss	See cases	GPathogenic
Select item 155138	GRCh38/hg38 15q11.2-14(chr15:25033869-37204304)x1	SNORD115-20, SNORD115-21 +314 more	Copy number loss	See cases	GPathogenic
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 57878	GRCh38/hg38 15q14(chr15:34588015-39280404)x1	ACTC1, AQR +99 more	Copy number loss	See cases	GPathogenic
Select item 57226	GRCh38/hg38 15q14(chr15:34995451-39735062)x1	CDIN1, DPH6 +92 more	Copy number loss	See cases	GPathogenic
Select item 153984	GRCh38/hg38 15q14(chr15:36264417-38045964)x3	CDIN1, LINC02345 +25 more	Copy number gain	See cases	GUncertain significance
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)	not provided +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 743016	NM_001321759.2(CDIN1):c.45A>C (p.Leu15=)	CDIN1	Single nucleotide variant (synonymous variant +1 more)	CDIN1-related condition +1 more	GLikely benign
Select item 1163569	NM_001321759.2(CDIN1):c.46G>A (p.Val16Met)	CDIN1 (V16M)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 692133	NM_001321759.2(CDIN1):c.59C>G (p.Pro20Arg)	CDIN1 (P20R)	Single nucleotide variant (missense variant +1 more)	Congenital dyserythropoietic anemia type type 1B	GUncertain significance
Select item 2067859	NM_001321759.2(CDIN1):c.98C>T (p.Pro33Leu)	CDIN1 (P33L)	Single nucleotide variant (missense variant +1 more)	Congenital dyserythropoietic anemia type type 1B +1 more	GUncertain significance
Select item 2001988	NM_001321759.2(CDIN1):c.101+17C>T	CDIN1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1244450	NM_001321759.2(CDIN1):c.101+207T>C	CDIN1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1954664	NM_001321759.2(CDIN1):c.102-18T>G	CDIN1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1902444	NM_001321759.2(CDIN1):c.112G>C (p.Ala38Pro)	CDIN1 (A38P)	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GLikely benign
Select item 2984150	NM_001321759.2(CDIN1):c.141G>A (p.Glu47=)	CDIN1	Single nucleotide variant (intron variant +2 more)	not provided	GLikely benign
Select item 2969688	NM_001321759.2(CDIN1):c.147+17T>A	CDIN1	Single nucleotide variant (intron variant)	not provided	GLikely benign
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 provided +2 more	GBenign
Select item 3021603	NM_001321759.2(CDIN1):c.148-16G>T	CDIN1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2968372	NM_001321759.2(CDIN1):c.148-8dup	CDIN1	Duplication (intron variant)	not provided	GBenign
Select item 1949053	NM_001321759.2(CDIN1):c.150A>G (p.Lys50=)	CDIN1	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GUncertain significance
Select item 2996575	NM_001321759.2(CDIN1):c.155T>G (p.Ile52Ser)	CDIN1 (I52S)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 1972096	NM_001321759.2(CDIN1):c.176A>G (p.His59Arg)	CDIN1 (H59R)	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GUncertain significance
Select item 742599	NM_001321759.2(CDIN1):c.180T>C (p.His60=)	CDIN1	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 710471	NM_001321759.2(CDIN1):c.185C>T (p.Ser62Leu)	CDIN1 (S62L)	Single nucleotide variant (missense variant +2 more)	CDIN1-related condition +1 more	GLikely benign
Select item 2888986	NM_001321759.2(CDIN1):c.186G>A (p.Ser62=)	CDIN1	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GBenign
Select item 3065408	NM_001321759.2(CDIN1):c.206A>G (p.Tyr69Cys)	CDIN1 (Y69C)	Single nucleotide variant (missense variant +2 more)	Congenital dyserythropoietic anemia type type 1B	GUncertain significance
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 2767299	NM_001321759.2(CDIN1):c.248C>T (p.Pro83Leu)	CDIN1 (P46L +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2695994	NM_001321759.2(CDIN1):c.260_263del (p.Asp87fs)	CDIN1 (D50fs +1 more)	Deletion (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 1969144	NM_001321759.2(CDIN1):c.269A>G (p.Asn90Ser)	CDIN1 (N90S +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
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 692134	NM_001321759.2(CDIN1):c.281A>C (p.Tyr94Ser)	CDIN1 (Y57S +1 more)	Single nucleotide variant (missense variant +1 more)	Congenital dyserythropoietic anemia type type 1B +1 more	GConflicting classifications of pathogenicity
Select item 97058	NM_001321759.2(CDIN1):c.281A>G (p.Tyr94Cys)	CDIN1 (Y94C +1 more)	Single nucleotide variant (missense variant +1 more)	Congenital dyserythropoietic anemia type type 1B	GLikely pathogenic
Select item 2688694	NM_001321759.2(CDIN1):c.298G>T (p.Ala100Ser)	CDIN1 (A100S +2 more)	Single nucleotide variant (missense variant +1 more)	Congenital dyserythropoietic anemia type type 1B	GUncertain significance
Select item 2683789	NM_001321759.2(CDIN1):c.307A>T (p.Ile103Leu)	CDIN1 (I103L +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2645152	NM_001321759.2(CDIN1):c.333C>T (p.His111=)	CDIN1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2982879	NM_001321759.2(CDIN1):c.346+15T>C	CDIN1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1272865	NM_001321759.2(CDIN1):c.346+255A>T	CDIN1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2075504	NM_001321759.2(CDIN1):c.401G>T (p.Gly134Val)	CDIN1 (G11V +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2700404	NM_001321759.2(CDIN1):c.415C>G (p.Gln139Glu)	CDIN1 (Q102E +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 257533	NM_001321759.2(CDIN1):c.423T>C (p.Tyr141=)	CDIN1	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 1988612	NM_001321759.2(CDIN1):c.426+20A>G	CDIN1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1286359	NM_001321759.2(CDIN1):c.426+26A>G	CDIN1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 257534	NM_001321759.2(CDIN1):c.427-15C>G	CDIN1	Single nucleotide variant (intron variant)	not provided +1 more	GBenign/Likely benign
Select item 3021946	NM_001321759.2(CDIN1):c.427-13T>C	CDIN1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1163570	NM_001321759.2(CDIN1):c.430A>G (p.Ile144Val)	CDIN1 (I107V +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2185414	NM_001321759.2(CDIN1):c.439G>A (p.Asp147Asn)	CDIN1 (D24N +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1965724	NM_001321759.2(CDIN1):c.476+13A>T	CDIN1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2781348	NM_001321759.2(CDIN1):c.476+20T>G	CDIN1	Single nucleotide variant (intron variant)	not provided	GLikely benign
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 2064030	NM_001321759.2(CDIN1):c.477-20C>T	CDIN1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2033927	NM_001321759.2(CDIN1):c.477-15dup	CDIN1	Duplication (intron variant)	not provided	GLikely benign
Select item 2077434	NM_001321759.2(CDIN1):c.522A>G (p.Leu174=)	CDIN1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 257535	NM_001321759.2(CDIN1):c.531C>T (p.Asn177=)	CDIN1	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign
Select item 97057	NM_001321759.2(CDIN1):c.533T>A (p.Leu178Gln)	CDIN1 (L178Q +3 more)	Single nucleotide variant (missense variant)	Congenital dyserythropoietic anemia type type 1B	GLikely pathogenic
Select item 1918520	NM_001321759.2(CDIN1):c.544+15C>T	CDIN1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1260084	NM_001321759.2(CDIN1):c.545-237G>T	CDIN1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2873978	NM_001321759.2(CDIN1):c.545-15T>C	CDIN1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1928119	NM_001321759.2(CDIN1):c.545-5T>C	CDIN1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2020556	NM_001321759.2(CDIN1):c.545-4G>A	CDIN1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1962142	NM_001321759.2(CDIN1):c.560G>C (p.Arg187Pro)	CDIN1 (R150P +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 2908755	NM_001321759.2(CDIN1):c.610+8C>G	CDIN1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3022448	NM_001321759.2(CDIN1):c.610+16_610+17del	CDIN1	Microsatellite (intron variant)	not provided	GLikely benign
Select item 2992397	NM_001321759.2(CDIN1):c.610+15T>A	CDIN1	Single nucleotide variant (intron variant)	not provided	GLikely benign
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 2688693	NM_001321759.2(CDIN1):c.620G>A (p.Gly207Glu)	CDIN1 (G109E +4 more)	Single nucleotide variant (missense variant +1 more)	Congenital dyserythropoietic anemia type type 1B	GUncertain significance
Select item 692135	NM_001321759.2(CDIN1):c.689A>C (p.His230Pro)	CDIN1 (H107P +4 more)	Single nucleotide variant (missense variant +1 more)	Congenital dyserythropoietic anemia type type 1B	GLikely pathogenic
Select item 692136	NM_001321759.2(CDIN1):c.707A>G (p.Tyr236Cys)	CDIN1 (Y113C +4 more)	Single nucleotide variant (missense variant +1 more)	Congenital dyserythropoietic anemia type type 1B	GUncertain significance
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
Select item 1970455	NM_001321759.2(CDIN1):c.740A>G (p.Tyr247Cys)	CDIN1 (Y210C +4 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2180495	NM_001321759.2(CDIN1):c.775C>T (p.Arg259Trp)	CDIN1 (R136W +4 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2136760	NM_001321759.2(CDIN1):c.776G>A (p.Arg259Gln)	CDIN1 (R265Q +4 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance

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