ClinVar for MedGen (Select 61235) - ClinVar

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Items: 46

VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 25792081.	GRCh38/hg38 1q21.1(chr1:145822587-146064587)x1 GRCh38: Chr1:145822587-146064587	ANKRD34A, ANKRD35, HJV, ITGA10, LINC01719, LIX1L, LIX1L-AS1, LOC106783502, LOC108254679, LOC122128419, LOC126805850, LOC126805851, LOC129931328, LOC129931329, LOC129931330, LOC129931331, LOC129931332, LOC129931333, LOC129931334, LOC129931335, LOC129931336, LOC129931337, LOC129931338, LOC129931339, LOC129931340, LOC129931341, LOC129931342, LOC129931343, LOC129931344, LOC129931345, LOC129931346, LOC129931347, LOC129931348, LOC129931349, LOC129931350, MIR6736, NUDT17, PEX11B, PIAS3, POLR3C, POLR3GL, RBM8A, RNF115, RNVU1-6, TRE-CTC1-1, TRG-TCC2-1, TRH-GTG1-1, TRK-CTT2-1, TXNIP		Radial aplasia-thrombocytopenia syndrome	Pathogenic (Aug 24, 2023)	criteria provided, single submitter
Select item 25023012.	NM_005105.5(RBM8A):c.*6C>T GRCh37: Chr1:145509217 GRCh38: Chr1:145925876	RBM8A		Radial aplasia-thrombocytopenia syndrome	Pathogenic	criteria provided, single submitter
Select item 21970993.	NM_005105.5(RBM8A):c.68-15C>T GRCh37: Chr1:145508001 GRCh38: Chr1:145927092	LIX1L-AS1, LOC126805851, RBM8A		Radial aplasia-thrombocytopenia syndrome	Likely benign (Aug 3, 2022)	criteria provided, single submitter
Select item 21548244.	NM_005105.5(RBM8A):c.206-14C>G GRCh37: Chr1:145508461 GRCh38: Chr1:145926632	LOC126805851, RBM8A		Radial aplasia-thrombocytopenia syndrome	Likely benign (Sep 21, 2022)	criteria provided, single submitter
Select item 21518245.	NM_005105.5(RBM8A):c.177G>A (p.Gln59=) GRCh37: Chr1:145508256 GRCh38: Chr1:145926837	LIX1L-AS1, LOC126805851, RBM8A		Radial aplasia-thrombocytopenia syndrome	Likely benign (May 6, 2022)	criteria provided, single submitter
Select item 21042606.	NM_005105.5(RBM8A):c.128-17G>C GRCh37: Chr1:145508190 GRCh38: Chr1:145926903	LIX1L-AS1, LOC126805851, RBM8A		Radial aplasia-thrombocytopenia syndrome	Likely benign (Mar 13, 2022)	criteria provided, single submitter
Select item 20845177.	NM_005105.5(RBM8A):c.404A>G (p.Asn135Ser) GRCh37: Chr1:145508977 GRCh38: Chr1:145926116	RBM8A	N119S, N135S	Radial aplasia-thrombocytopenia syndrome	Uncertain significance (Jul 29, 2022)	criteria provided, single submitter
Select item 20525908.	NM_005105.5(RBM8A):c.206-18C>G GRCh37: Chr1:145508457 GRCh38: Chr1:145926636	LOC126805851, RBM8A		Radial aplasia-thrombocytopenia syndrome	Likely benign (Oct 14, 2022)	criteria provided, single submitter
Select item 20396569.	NM_005105.5(RBM8A):c.127+19G>A GRCh37: Chr1:145508094 GRCh38: Chr1:145926999	LIX1L-AS1, LOC126805851, RBM8A		Radial aplasia-thrombocytopenia syndrome	Likely benign (May 4, 2022)	criteria provided, single submitter
Select item 202547910.	NM_005105.5(RBM8A):c.67+13G>A GRCh37: Chr1:145507746 GRCh38: Chr1:145927347	RBM8A, LIX1L-AS1, LOC126805851		Radial aplasia-thrombocytopenia syndrome	Likely benign (Sep 6, 2022)	criteria provided, single submitter
Select item 200384411.	NM_005105.5(RBM8A):c.345G>A (p.Gly115=) GRCh37: Chr1:145508918 GRCh38: Chr1:145926175	RBM8A		Radial aplasia-thrombocytopenia syndrome	Likely benign (Aug 22, 2022)	criteria provided, single submitter
Select item 168612412.	NM_005105.5(RBM8A):c.-19G>A GRCh37: Chr1:145507648 GRCh38: Chr1:145927445	LIX1L-AS1, LOC126805851, RBM8A		Radial aplasia-thrombocytopenia syndrome	Pathogenic (May 4, 2022)	criteria provided, single submitter
Select item 168612313.	NM_005105.5(RBM8A):c.67+34G>C GRCh37: Chr1:145507767 GRCh38: Chr1:145927326	LIX1L-AS1, LOC126805851, RBM8A		Radial aplasia-thrombocytopenia syndrome	Pathogenic (May 4, 2022)	criteria provided, single submitter
Select item 163115814.	NM_005105.5(RBM8A):c.342+19T>C GRCh37: Chr1:145508630 GRCh38: Chr1:145926463	LOC126805851, RBM8A		Radial aplasia-thrombocytopenia syndrome	Likely benign (Jan 29, 2021)	criteria provided, single submitter
Select item 157074315.	NM_005105.5(RBM8A):c.128-7C>T GRCh37: Chr1:145508200 GRCh38: Chr1:145926893	LIX1L-AS1, LOC126805851, RBM8A		Radial aplasia-thrombocytopenia syndrome	Likely benign (Oct 5, 2022)	criteria provided, single submitter
Select item 150356016.	NM_005105.5(RBM8A):c.479G>A (p.Arg160Lys) GRCh37: Chr1:145509052 GRCh38: Chr1:145926041	RBM8A	R160K	Radial aplasia-thrombocytopenia syndrome	Uncertain significance (Sep 1, 2021)	criteria provided, single submitter
Select item 145911117.	NC_000001.10:g.(?_145414782)_(145610584_?)del GRCh37: Chr1:145414782-145610584	ANKRD34A, ANKRD35, HJV, ITGA10, LIX1L, NUDT17, PEX11B, PIAS3, RBM8A, TXNIP, POLR3C, POLR3GL		not provided	Pathogenic (Sep 27, 2022)	criteria provided, single submitter
Select item 133301018.	Single allele GRCh37: Chr1:145505730-145513586	RBM8A		Radial aplasia-thrombocytopenia syndrome	Pathogenic	criteria provided, single submitter
Select item 133300319.	GRCh37/hg19 1q21.1(chr1:145038814-145747463) GRCh37: Chr1:145038814-145747463	ITGA10, LIX1L, NBPF10, NOTCH2NLA, NUDT17, ANKRD35, CD160, HJV, ANKRD34A, PDE4DIP, PDZK1, PEX11B, PIAS3, POLR3C, POLR3GL, RBM8A, RNF115, TXNIP		Radial aplasia-thrombocytopenia syndrome	Pathogenic	criteria provided, single submitter
Select item 123975820.	NM_005105.5(RBM8A):c.479+15G>A GRCh37: Chr1:145509067 GRCh38: Chr1:145926026	RBM8A		not provided, Radial aplasia-thrombocytopenia syndrome	Benign (Nov 2, 2022)	criteria provided, multiple submitters, no conflicts
Select item 123230621.	NM_005105.5(RBM8A):c.343-2A>G GRCh37: Chr1:145508914 GRCh38: Chr1:145926179	RBM8A		Radial aplasia-thrombocytopenia syndrome	Pathogenic (Sep 8, 2021)	no assertion criteria provided
Select item 121705422.	NM_005105.5(RBM8A):c.205+17C>A GRCh37: Chr1:145508301 GRCh38: Chr1:145926792	LOC126805851, RBM8A		not provided, Radial aplasia-thrombocytopenia syndrome	Benign/Likely benign (Oct 26, 2022)	criteria provided, multiple submitters, no conflicts
Select item 120736323.	NM_005105.5(RBM8A):c.206-20T>C GRCh37: Chr1:145508455 GRCh38: Chr1:145926638	LOC126805851, RBM8A		Radial aplasia-thrombocytopenia syndrome, not provided	Benign/Likely benign (Nov 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 106414824.	NC_000001.10:g.(?_145414782)_(145610584_?)dup GRCh37: Chr1:145414782-145610584	HJV, ITGA10, ANKRD34A, ANKRD35, LIX1L, NUDT17, PEX11B, PIAS3, POLR3C, POLR3GL, RBM8A, TXNIP		Radial aplasia-thrombocytopenia syndrome	Uncertain significance (Oct 8, 2022)	criteria provided, single submitter
Select item 86487225.	NM_005105.5(RBM8A):c.205+3_205+6del GRCh37: Chr1:145508285-145508288 GRCh38: Chr1:145926803-145926806	RBM8A, LOC126805851		Radial aplasia-thrombocytopenia syndrome	Pathogenic (Nov 2, 2019)	no assertion criteria provided
Select item 86487126.	NM_005105.5(RBM8A):c.206-13C>A GRCh37: Chr1:145508462 GRCh38: Chr1:145926631	LOC126805851, RBM8A		Radial aplasia-thrombocytopenia syndrome	Pathogenic (Nov 2, 2019)	no assertion criteria provided
Select item 86487027.	NM_005105.5(RBM8A):c.-19G>T GRCh37: Chr1:145507648 GRCh38: Chr1:145927445	RBM8A, LOC126805851, LIX1L-AS1		Radial aplasia-thrombocytopenia syndrome	Pathogenic (Nov 2, 2019)	no assertion criteria provided
Select item 85559928.	NM_005105.5(RBM8A):c.68-3C>T GRCh37: Chr1:145508013 GRCh38: Chr1:145927080	LIX1L-AS1, LOC126805851, RBM8A		Radial aplasia-thrombocytopenia syndrome	Uncertain significance (Sep 1, 2021)	criteria provided, single submitter
Select item 84984929.	NM_005105.5(RBM8A):c.336_342+2del GRCh37: Chr1:145508605-145508613 GRCh38: Chr1:145926480-145926488	LOC126805851, RBM8A		Radial aplasia-thrombocytopenia syndrome	Likely pathogenic (Apr 27, 2019)	criteria provided, single submitter
Select item 79825330.	NM_005105.5(RBM8A):c.265A>G (p.Ile89Val) GRCh37: Chr1:145508534 GRCh38: Chr1:145926559	LOC126805851, RBM8A	I89V	Radial aplasia-thrombocytopenia syndrome	Likely benign (Nov 14, 2018)	criteria provided, single submitter
Select item 77250531.	NM_005105.5(RBM8A):c.68-6T>C GRCh37: Chr1:145508010 GRCh38: Chr1:145927083	LOC126805851, RBM8A, LIX1L-AS1		not provided, Radial aplasia-thrombocytopenia syndrome	Benign/Likely benign (Oct 26, 2022)	criteria provided, multiple submitters, no conflicts
Select item 77131332.	NM_005105.5(RBM8A):c.128-9C>T GRCh37: Chr1:145508198 GRCh38: Chr1:145926895	LIX1L-AS1, LOC126805851, RBM8A		Radial aplasia-thrombocytopenia syndrome	Benign/Likely benign (Aug 21, 2022)	criteria provided, multiple submitters, no conflicts
Select item 69460133.	NC_000001.11:g.145919695T>C GRCh37: Chr1:145515394 GRCh38: Chr1:145919695			Radial aplasia-thrombocytopenia syndrome	Likely pathogenic (Sep 16, 2019)	no assertion criteria provided
Select item 69222134.	NC_000001.11:g.145601946_148597425del GRCh38: Chr1:145601946-148597425	GPR89B, LOC129931326, LOC129931327, LOC129931361, TRH-GTG1-2, TRH-GTG1-3, TRH-GTG1-4, TRK-CTT2-1, TRN-GTT2-1, TRN-GTT24-1, TRN-GTT9-2, TRQ-CTG3-2, TRQ-CTG4-1, TRQ-CTG7-1, TXNIP, LOC129931362, LOC129931363, LOC129931364, LOC129931367, MIR5087, MIR6077, LOC129931343, LOC129931344, LOC129931330, LOC129931331, LOC129931332, LOC129931333, LOC129931334, LOC129931335, LOC129931336, LOC129931337, LOC129931365, LOC129931366, MIR6736, NBPF10, NBPF11, NBPF12, NBPF14, NOTCH2NLA, NUDT17, PDZK1, PEX11B, PIAS3, POLR3C, HJV, ITGA10, LINC00624, LINC01138, LINC01719, LINC01731, LOC111556113, LOC112577490, LIX1L, LIX1L-AS1, LOC101927468, LOC106783502, LOC108254679, LOC110121261, LINC02805, LINC02806, LOC129931328, LOC129931329, LOC129931338, LOC129931339, LOC129931340, LOC129931341, LOC129931342, ACP6, ANKRD34A, ANKRD35, BCL9, CD160, CH17-408M7.1, CHD1L, FMO5, GJA5, GJA8, GPR89A, LOC121725051, LOC121725052, LOC121725053, LOC122128419, LOC122128420, LOC126805849, LOC126805850, LOC126805851, LOC126805852, LOC126805853, LOC126805854, LOC128071544, LOC129388601, LOC129388602, LOC129388603, LOC129388604, LOC129931345, LOC129931346, LOC129931347, LOC129931348, LOC129931349, LOC129931350, LOC129931351, LOC129931352, LOC129931353, LOC129931354, LOC129931355, LOC129931356, LOC129931357, LOC129931358, LOC129931359, LOC129931360, POLR3GL, PPIAL4G, PPIAL4H, PRKAB2, RBM8A, RNF115, RNVU1-1, RNVU1-27, RNVU1-3, RNVU1-6, RNVU1-7, RNVU1-8, TRE-CTC1-1, TRG-TCC2-1, TRH-GTG1-1		Radial aplasia-thrombocytopenia syndrome	Likely pathogenic (Sep 16, 2019)	no assertion criteria provided
Select item 62554135.	GRCh37/hg19 1q21.1(chr1:145395604-145704146) GRCh37: Chr1:145395604-145704146	ANKRD34A, ANKRD35, CD160, HJV, ITGA10, LIX1L, NUDT17, PEX11B, PIAS3, POLR3C, POLR3GL, RBM8A, RNF115, TXNIP		Radial aplasia-thrombocytopenia syndrome	Likely pathogenic (Nov 1, 2018)	criteria provided, single submitter
Select item 58523636.	GRCh37/hg19 1q21.1(chr1:145415156-145799615)x1 GRCh37: Chr1:145415156-145799615	POLR3C, POLR3GL, RBM8A, RNF115, TXNIP, ANKRD34A, ANKRD35, CD160, GPR89A, HJV, ITGA10, LIX1L, NUDT17, PDZK1, PEX11B, PIAS3		Radial aplasia-thrombocytopenia syndrome	not provided	no assertion provided
Select item 52837737.	NC_000001.10:g.(?_145507647)_(145509231_?)del GRCh37: Chr1:145507647-145509231	RBM8A		Radial aplasia-thrombocytopenia syndrome	Pathogenic (Dec 23, 2019)	criteria provided, single submitter
Select item 43651838.	NM_005105.5(RBM8A):c.318C>T (p.Leu106=) GRCh37: Chr1:145508587 GRCh38: Chr1:145926506	LOC126805851, RBM8A		not provided, not specified, Radial aplasia-thrombocytopenia syndrome	Benign/Likely benign (Mar 1, 2023)	criteria provided, multiple submitters, no conflicts
Select item 43651739.	NM_005105.5(RBM8A):c.240C>T (p.Val80=) GRCh37: Chr1:145508509 GRCh38: Chr1:145926584	RBM8A, LOC126805851		Radial aplasia-thrombocytopenia syndrome, not specified	Benign/Likely benign (Oct 24, 2022)	criteria provided, multiple submitters, no conflicts
Select item 9524540.	NM_005105.5(RBM8A):c.*6C>G GRCh37: Chr1:145509217 GRCh38: Chr1:145925876	RBM8A		RBM8A-related condition, not provided, Radial aplasia-thrombocytopenia syndrome	Conflicting interpretations of pathogenicity (Sep 13, 2023)	criteria provided, conflicting interpretations
Select item 4097541.	NC_000001.10:g.(?_145413072)_(145592772_145596903)del GRCh37: Chr1:145413072-145596903	LIX1L, ANKRD35, ANKRD34A, HJV, ITGA10, NUDT17, PEX11B, PIAS3, POLR3C, POLR3GL, RBM8A, TXNIP		Radial aplasia-thrombocytopenia syndrome	Pathogenic (Feb 2, 2012)	no assertion criteria provided
Select item 3046742.	NM_005105.5(RBM8A):c.487C>T (p.Arg163Ter) GRCh37: Chr1:145509173 GRCh38: Chr1:145925920	RBM8A		Radial aplasia-thrombocytopenia syndrome	Pathogenic (Feb 26, 2012)	no assertion criteria provided
Select item 3046643.	NM_005105.5(RBM8A):c.207_208insAGCG (p.Val70fs) GRCh37: Chr1:145508476-145508477 GRCh38: Chr1:145926616-145926617	LOC126805851, RBM8A	V70fs	Radial aplasia-thrombocytopenia syndrome	Pathogenic (Feb 26, 2012)	no assertion criteria provided
Select item 3046544.	NM_005105.5(RBM8A):c.67+32G>C GRCh37: Chr1:145507765 GRCh38: Chr1:145927328	LIX1L-AS1, LOC126805851, RBM8A		Global developmental delay, Abnormal brain morphology, Clinodactyly of the 5th finger, RBM8A-related condition, not provided, Radial aplasia-thrombocytopenia syndrome	Pathogenic/Likely pathogenic/Pathogenic, low penetrance (Aug 30, 2023)	criteria provided, multiple submitters, no conflicts
Select item 3046445.	NM_005105.5(RBM8A):c.-21G>A GRCh37: Chr1:145507646 GRCh38: Chr1:145927447	LIX1L-AS1, LOC126805851, RBM8A		RBM8A-related condition, not provided, Radial aplasia-thrombocytopenia syndrome	Conflicting interpretations of pathogenicity; other (Sep 13, 2023)	criteria provided, conflicting interpretations
Select item 2186946.	nsv491550			Radial aplasia-thrombocytopenia syndrome	Pathogenic (May 13, 2011)	no assertion criteria provided

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Items: 46