ClinVar for MedGen (Select 934711) - ClinVar

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Items: 28

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3065635	NM_001012339.3(DNAJC21):c.381delinsCTAGTGT (p.Leu127delinsPheTer)	DNAJC21	Indel (nonsense)	Bone marrow failure syndrome 3	GPathogenic
Select item 2585147	NM_001012339.3(DNAJC21):c.316-2A>C	DNAJC21	Single nucleotide variant (splice acceptor variant)	Bone marrow failure syndrome 3	GLikely pathogenic
Select item 2215909	NM_001012339.3(DNAJC21):c.203A>G (p.His68Arg)	DNAJC21 (H68R)	Single nucleotide variant (missense variant)	Bone marrow failure syndrome 3 +1 more	GUncertain significance
Select item 1705479	NM_001012339.3(DNAJC21):c.1004C>A (p.Ser335Ter)	DNAJC21 (S335*)	Single nucleotide variant (nonsense)	Bone marrow failure syndrome 3	GLikely pathogenic
Select item 1427599	NM_001012339.3(DNAJC21):c.410T>C (p.Phe137Ser)	DNAJC21 (F137S)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1394237	NM_001012339.3(DNAJC21):c.673G>T (p.Glu225Ter)	DNAJC21 (E225*)	Single nucleotide variant (nonsense)	Bone marrow failure syndrome 3 +1 more	GPathogenic
Select item 1339573	NM_001012339.3(DNAJC21):c.643_644delinsTTT (p.Lys215fs)	DNAJC21 (K215fs)	Indel (frameshift variant)	Bone marrow failure syndrome 3	GPathogenic
Select item 1339571	NM_001012339.3(DNAJC21):c.148C>T (p.Gln50Ter)	DNAJC21 (Q50*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 1336969	NM_001012339.3(DNAJC21):c.1186-531G>A	DNAJC21 (E428K)	Single nucleotide variant (missense variant +1 more)	Bone marrow failure syndrome 3 +3 more	GUncertain significance
Select item 1303476	NM_001012339.3(DNAJC21):c.1368del (p.Lys456fs)	DNAJC21 (K456fs +2 more)	Deletion (frameshift variant)	Shwachman-Diamond syndrome 1 +2 more	GUncertain significance
Select item 1174703	NM_001012339.3(DNAJC21):c.1016G>A (p.Arg339Gln)	DNAJC21 (R339Q)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 1164684	NM_001012339.3(DNAJC21):c.191+10A>G	DNAJC21	Single nucleotide variant (intron variant)	Bone marrow failure syndrome 3 +1 more	GConflicting classifications of pathogenicity
Select item 1031725	NM_001012339.3(DNAJC21):c.958G>A (p.Asp320Asn)	DNAJC21 (D320N)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 1031724	NM_001012339.3(DNAJC21):c.1015C>T (p.Arg339Trp)	DNAJC21 (R339W)	Single nucleotide variant (missense variant)	Bone marrow failure syndrome 3	GUncertain significance
Select item 1028445	NM_001012339.3(DNAJC21):c.1224dup (p.Gly409fs)	DNAJC21 (G422fs +2 more)	Duplication (frameshift variant)	not provided +1 more	GPathogenic
Select item 1009379	NM_001012339.3(DNAJC21):c.1481G>A (p.Arg494Gln)	DNAJC21 (R494Q +2 more)	Single nucleotide variant (missense variant)	Bone marrow failure syndrome 3 +1 more	GUncertain significance
Select item 813932	NM_001012339.3(DNAJC21):c.463T>C (p.Trp155Arg)	DNAJC21 (W155R)	Single nucleotide variant (missense variant)	Bone marrow failure syndrome 3	GUncertain significance
Select item 807409	NM_001012339.3(DNAJC21):c.647_666del (p.Arg216fs)	DNAJC21 (R216fs)	Deletion (frameshift variant)	Bone marrow failure syndrome 3	GPathogenic
Select item 802111	NM_001012339.3(DNAJC21):c.982del (p.Ala328fs)	DNAJC21 (A328fs)	Deletion (frameshift variant)	Bone marrow failure syndrome 3	GPathogenic
Select item 790400	NM_001012339.3(DNAJC21):c.1024G>A (p.Val342Met)	DNAJC21 (V342M)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 721326	NM_001012339.3(DNAJC21):c.821G>A (p.Arg274Gln)	DNAJC21 (R274Q)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign/Likely benign
Select item 617607	NM_001012339.3(DNAJC21):c.100A>G (p.Lys34Glu)	DNAJC21 (K34E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GPathogenic
Select item 617606	NM_001012339.3(DNAJC21):c.520C>T (p.Gln174Ter)	DNAJC21 (Q174*)	Single nucleotide variant (nonsense)	Bone marrow failure syndrome 3	GPathogenic
Select item 253171	NM_001012339.3(DNAJC21):c.983+1G>T	DNAJC21	Single nucleotide variant (splice donor variant)	Bone marrow failure syndrome 3	GLikely pathogenic
Select item 222066	NM_001012339.3(DNAJC21):c.983+1G>A	DNAJC21	Single nucleotide variant (splice donor variant)	Shwachman-Diamond syndrome 1 +2 more	GPathogenic/Likely pathogenic
Select item 222065	NM_001012339.3(DNAJC21):c.793G>T (p.Glu265Ter)	DNAJC21 (E265*)	Single nucleotide variant (nonsense)	Bone marrow failure syndrome 3 +1 more	GPathogenic
Select item 222064	NM_001012339.3(DNAJC21):c.517C>T (p.Arg173Ter)	DNAJC21 (R173*)	Single nucleotide variant (nonsense)	Bone marrow failure syndrome 3 +1 more	GPathogenic
Select item 222063	NM_001012339.3(DNAJC21):c.94C>G (p.Pro32Ala)	DNAJC21, LOC129993792 (P32A)	Single nucleotide variant (missense variant)	Bone marrow failure syndrome 3 +1 more	GPathogenic

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Items: 28