ClinVar for MedGen (Select 61235) - ClinVar

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Items: 65

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3023281	NM_005105.5(RBM8A):c.67+17C>T	LIX1L-AS1, LOC126805851 +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	Radial aplasia-thrombocytopenia syndrome	GLikely benign
Select item 2914760	NM_005105.5(RBM8A):c.67+11T>C	LIX1L-AS1, LOC126805851 +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	Radial aplasia-thrombocytopenia syndrome	GLikely benign
Select item 2886318	NM_005105.5(RBM8A):c.138C>T (p.Ser46=)	LOC126805851, RBM8A +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	Radial aplasia-thrombocytopenia syndrome	GLikely benign
Select item 2873241	NM_005105.5(RBM8A):c.480-5C>T	RBM8A	Single nucleotide variant (intron variant)	Radial aplasia-thrombocytopenia syndrome	GLikely benign
Select item 2860843	NM_005105.5(RBM8A):c.343-19G>C	RBM8A	Single nucleotide variant (intron variant)	Radial aplasia-thrombocytopenia syndrome	GLikely benign
Select item 2855142	NM_005105.5(RBM8A):c.480-8T>G	RBM8A	Single nucleotide variant (intron variant)	Radial aplasia-thrombocytopenia syndrome	GLikely benign
Select item 2826546	NM_005105.5(RBM8A):c.342+8_342+11del	LOC126805851, RBM8A	Deletion (intron variant)	Radial aplasia-thrombocytopenia syndrome	GLikely benign
Select item 2825786	NM_005105.5(RBM8A):c.343-13T>C	RBM8A	Single nucleotide variant (intron variant)	Radial aplasia-thrombocytopenia syndrome	GLikely benign
Select item 2779472	NM_005105.5(RBM8A):c.127+21dup	LIX1L-AS1, LOC126805851 +1 more	Duplication (intron variant)	Radial aplasia-thrombocytopenia syndrome	GBenign
Select item 2754863	NM_005105.5(RBM8A):c.45C>T (p.Phe15=)	LIX1L-AS1, LOC126805851 +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	Radial aplasia-thrombocytopenia syndrome	GLikely benign
Select item 2735224	NM_005105.5(RBM8A):c.6G>C (p.Ala2=)	LIX1L-AS1, LOC126805851 +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	Radial aplasia-thrombocytopenia syndrome	GLikely benign
Select item 2733650	NM_005105.5(RBM8A):c.255C>T (p.Thr85=)	LOC126805851, RBM8A	Single nucleotide variant (synonymous variant)	Radial aplasia-thrombocytopenia syndrome	GLikely benign
Select item 2729155	NM_005105.5(RBM8A):c.479+12A>G	RBM8A	Single nucleotide variant (intron variant)	Radial aplasia-thrombocytopenia syndrome	GLikely benign
Select item 2726216	NM_005105.5(RBM8A):c.343-17C>T	RBM8A	Single nucleotide variant (intron variant)	Radial aplasia-thrombocytopenia syndrome	GLikely benign
Select item 2723512	NM_005105.5(RBM8A):c.206-13del	LOC126805851, RBM8A	Deletion (intron variant)	Radial aplasia-thrombocytopenia syndrome	GBenign
Select item 2701923	NM_005105.5(RBM8A):c.279C>T (p.Phe93=)	LOC126805851, RBM8A	Single nucleotide variant (synonymous variant)	Radial aplasia-thrombocytopenia syndrome	GLikely benign
Select item 2700392	NM_005105.5(RBM8A):c.68-18T>C	LIX1L-AS1, LOC126805851 +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	Radial aplasia-thrombocytopenia syndrome	GLikely benign
Select item 2579208	GRCh38/hg38 1q21.1(chr1:145822587-146064587)x1	ANKRD34A, ANKRD35 +47 more	Copy number loss	Radial aplasia-thrombocytopenia syndrome	GPathogenic
Select item 2502301	NM_005105.5(RBM8A):c.*6C>T	RBM8A	Single nucleotide variant (3 prime UTR variant)	Radial aplasia-thrombocytopenia syndrome	GPathogenic
Select item 2197099	NM_005105.5(RBM8A):c.68-15C>T	RBM8A, LIX1L-AS1 +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	Radial aplasia-thrombocytopenia syndrome	GLikely benign
Select item 2154824	NM_005105.5(RBM8A):c.206-14C>G	LOC126805851, RBM8A	Single nucleotide variant (intron variant)	Radial aplasia-thrombocytopenia syndrome	GLikely benign
Select item 2151824	NM_005105.5(RBM8A):c.177G>A (p.Gln59=)	LIX1L-AS1, LOC126805851 +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	Radial aplasia-thrombocytopenia syndrome	GLikely benign
Select item 2114526	NM_003846.3(PEX11B):c.338G>A (p.Arg113His)	PEX11B (R113H +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 2104260	NM_005105.5(RBM8A):c.128-17G>C	LIX1L-AS1, LOC126805851 +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	Radial aplasia-thrombocytopenia syndrome	GLikely benign
Select item 2084517	NM_005105.5(RBM8A):c.404A>G (p.Asn135Ser)	RBM8A (N135S)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2052590	NM_005105.5(RBM8A):c.206-18C>G	LOC126805851, RBM8A	Single nucleotide variant (intron variant)	Radial aplasia-thrombocytopenia syndrome	GLikely benign
Select item 2039656	NM_005105.5(RBM8A):c.127+19G>A	LIX1L-AS1, LOC126805851 +1 more	Single nucleotide variant (intron variant)	Radial aplasia-thrombocytopenia syndrome	GLikely benign
Select item 2025479	NM_005105.5(RBM8A):c.67+13G>A	LIX1L-AS1, LOC126805851 +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	Radial aplasia-thrombocytopenia syndrome	GLikely benign
Select item 2003844	NM_005105.5(RBM8A):c.345G>A (p.Gly115=)	RBM8A	Single nucleotide variant (synonymous variant)	Radial aplasia-thrombocytopenia syndrome	GLikely benign
Select item 1686124	NM_005105.5(RBM8A):c.-19G>A	LIX1L-AS1, LOC126805851 +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	Radial aplasia-thrombocytopenia syndrome	GPathogenic
Select item 1686123	NM_005105.5(RBM8A):c.67+34G>C	LIX1L-AS1, LOC126805851 +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	Radial aplasia-thrombocytopenia syndrome	GPathogenic
Select item 1631158	NM_005105.5(RBM8A):c.342+19T>C	LOC126805851, RBM8A	Single nucleotide variant (intron variant)	Radial aplasia-thrombocytopenia syndrome	GLikely benign
Select item 1570743	NM_005105.5(RBM8A):c.128-7C>T	LIX1L-AS1, LOC126805851 +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	Radial aplasia-thrombocytopenia syndrome	GLikely benign
Select item 1503560	NM_005105.5(RBM8A):c.479G>A (p.Arg160Lys)	RBM8A (R160K)	Single nucleotide variant (missense variant)	Radial aplasia-thrombocytopenia syndrome	GUncertain significance
Select item 1459111	NC_000001.10:g.(?_145414782)_(145610584_?)del	ANKRD34A, ANKRD35 +10 more	Deletion	Radial aplasia-thrombocytopenia syndrome	GPathogenic
Select item 1333010	NC_000001.10:g.145505732_145513588del	RBM8A	Deletion	Radial aplasia-thrombocytopenia syndrome	GPathogenic
Select item 1333003	GRCh37/hg19 1q21.1(chr1:145038814-145747463)	ANKRD34A, ANKRD35 +16 more	Copy number loss	Radial aplasia-thrombocytopenia syndrome	GPathogenic
Select item 1239758	NM_005105.5(RBM8A):c.479+15G>A	RBM8A	Single nucleotide variant (intron variant)	Radial aplasia-thrombocytopenia syndrome +1 more	GBenign
Select item 1232306	NM_005105.5(RBM8A):c.343-2A>G	RBM8A	Single nucleotide variant (splice acceptor variant)	Radial aplasia-thrombocytopenia syndrome	GPathogenic
Select item 1217054	NM_005105.5(RBM8A):c.205+17C>A	LOC126805851, RBM8A	Single nucleotide variant (intron variant)	not provided +1 more	GBenign/Likely benign
Select item 1207363	NM_005105.5(RBM8A):c.206-20T>C	LOC126805851, RBM8A	Single nucleotide variant (intron variant)	Radial aplasia-thrombocytopenia syndrome +1 more	GBenign/Likely benign
Select item 1064148	NC_000001.10:g.(?_145414782)_(145610584_?)dup	LIX1L, NUDT17 +10 more	Duplication	Radial aplasia-thrombocytopenia syndrome	GUncertain significance
Select item 864872	NM_005105.5(RBM8A):c.205+3_205+6del	LOC126805851, RBM8A	Deletion (splice donor variant)	Radial aplasia-thrombocytopenia syndrome	GPathogenic
Select item 864871	NM_005105.5(RBM8A):c.206-13C>A	RBM8A, LOC126805851	Single nucleotide variant (intron variant)	Radial aplasia-thrombocytopenia syndrome	GPathogenic
Select item 864870	NM_005105.5(RBM8A):c.-19G>T	LIX1L-AS1, LOC126805851 +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	Radial aplasia-thrombocytopenia syndrome	GPathogenic
Select item 855599	NM_005105.5(RBM8A):c.68-3C>T	LIX1L-AS1, LOC126805851 +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	Radial aplasia-thrombocytopenia syndrome	GUncertain significance
Select item 849849	NM_005105.5(RBM8A):c.336_342+2del	LOC126805851, RBM8A	Deletion (splice donor variant)	Radial aplasia-thrombocytopenia syndrome	GLikely pathogenic
Select item 798253	NM_005105.5(RBM8A):c.265A>G (p.Ile89Val)	LOC126805851, RBM8A (I89V)	Single nucleotide variant (missense variant)	Radial aplasia-thrombocytopenia syndrome	GLikely benign
Select item 772505	NM_005105.5(RBM8A):c.68-6T>C	LIX1L-AS1, LOC126805851 +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +1 more	GBenign/Likely benign
Select item 771313	NM_005105.5(RBM8A):c.128-9C>T	LIX1L-AS1, LOC126805851 +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	Radial aplasia-thrombocytopenia syndrome	GBenign/Likely benign
Select item 742641	NM_005105.5(RBM8A):c.68-4C>T	LIX1L-AS1, LOC126805851 +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	Radial aplasia-thrombocytopenia syndrome	GLikely benign
Select item 694601	NC_000001.11:g.145919695T>C		Single nucleotide variant (non-coding transcript variant)	Radial aplasia-thrombocytopenia syndrome	GLikely pathogenic
Select item 692221	NC_000001.11:g.145601946_148597425del	GPR89B, LOC129931326 +123 more	Deletion	Radial aplasia-thrombocytopenia syndrome	GLikely pathogenic
Select item 625541	GRCh37/hg19 1q21.1(chr1:145395604-145704146)	ANKRD34A, ANKRD35 +12 more	Copy number loss	Radial aplasia-thrombocytopenia syndrome	GLikely pathogenic
Select item 585236	GRCh37/hg19 1q21.1(chr1:145415156-145799615)x1	POLR3C, POLR3GL +14 more	Copy number loss	Radial aplasia-thrombocytopenia syndrome	Gnot provided
Select item 528377	NC_000001.10:g.(?_145507647)_(145509231_?)del	RBM8A	Deletion	Radial aplasia-thrombocytopenia syndrome	GPathogenic
Select item 436518	NM_005105.5(RBM8A):c.318C>T (p.Leu106=)	LOC126805851, RBM8A	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign/Likely benign
Select item 436517	NM_005105.5(RBM8A):c.240C>T (p.Val80=)	LOC126805851, RBM8A	Single nucleotide variant (synonymous variant)	Radial aplasia-thrombocytopenia syndrome +2 more	GBenign/Likely benign
Select item 95245	NM_005105.5(RBM8A):c.*6C>G	RBM8A	Single nucleotide variant (3 prime UTR variant)	RBM8A-related disorder +2 more	GConflicting classifications of pathogenicity
Select item 40975	NC_000001.10:g.(?_145413072)_(145592772_145596903)del	LIX1L, ANKRD35 +10 more	Deletion	Radial aplasia-thrombocytopenia syndrome	GPathogenic
Select item 30467	NM_005105.5(RBM8A):c.487C>T (p.Arg163Ter)	RBM8A	Single nucleotide variant (nonsense)	Radial aplasia-thrombocytopenia syndrome	GPathogenic
Select item 30466	NM_005105.5(RBM8A):c.207_208insAGCG (p.Val70fs)	LOC126805851, RBM8A (V70fs)	Insertion (frameshift variant)	Radial aplasia-thrombocytopenia syndrome	GPathogenic
Select item 30465	NM_005105.5(RBM8A):c.67+32G>C	RBM8A, LIX1L-AS1 +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	Global developmental delay +4 more	GPathogenic/Likely pathogenic/Pathogenic, low penetrance
Select item 30464	NM_005105.5(RBM8A):c.-21G>A	LIX1L-AS1, LOC126805851 +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity; other
Select item 21869	nsv491550		Deletion	Radial aplasia-thrombocytopenia syndrome	GPathogenic

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Items: 65