ClinVar for MedGen (Select 301437) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3065947	NM_003638.3(ITGA8):c.1970+1G>A	ITGA8	Single nucleotide variant (splice donor variant)	Renal hypodysplasia/aplasia 1	GLikely pathogenic
Select item 2627439	NM_003638.3(ITGA8):c.1764+1G>A	ITGA8	Single nucleotide variant (splice donor variant)	Renal hypodysplasia/aplasia 1	GLikely pathogenic
Select item 2627438	NM_003638.3(ITGA8):c.1961C>T (p.Ser654Leu)	ITGA8 (S639L +1 more)	Single nucleotide variant (missense variant)	Renal hypodysplasia/aplasia 1	GUncertain significance
Select item 2432922	NM_003638.3(ITGA8):c.2075T>A (p.Ile692Lys)	ITGA8 (I677K +1 more)	Single nucleotide variant (missense variant)	Renal hypodysplasia/aplasia 1	GUncertain significance
Select item 2432920	NM_003638.3(ITGA8):c.1159G>A (p.Gly387Ser)	ITGA8 (G372S +1 more)	Single nucleotide variant (missense variant)	Renal hypodysplasia/aplasia 1 +1 more	GUncertain significance
Select item 1706540	NM_003638.3(ITGA8):c.2804dup (p.Val936fs)	ITGA8 (V921fs +1 more)	Duplication (frameshift variant)	Renal hypodysplasia/aplasia 1	GPathogenic
Select item 1601627	NM_003638.3(ITGA8):c.1400-11G>A	ITGA8	Single nucleotide variant (intron variant)	not provided +1 more	GBenign/Likely benign
Select item 1324596	NM_003638.3(ITGA8):c.2626C>T (p.Gln876Ter)	ITGA8 (Q861* +1 more)	Single nucleotide variant (nonsense)	Renal hypodysplasia/aplasia 1	GLikely pathogenic
Select item 1290122	NM_003638.3(ITGA8):c.2981T>C (p.Val994Ala)	ITGA8 (V979A +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 1273753	NM_003638.3(ITGA8):c.444+14G>A	ITGA8	Single nucleotide variant (intron variant)	Renal hypodysplasia/aplasia 1 +1 more	GBenign
Select item 1264237	NM_003638.3(ITGA8):c.803-21G>C	ITGA8	Single nucleotide variant (intron variant)	Renal hypodysplasia/aplasia 1 +1 more	GBenign
Select item 1032141	NM_003638.3(ITGA8):c.1156T>C (p.Phe386Leu)	ITGA8 (F386L +1 more)	Single nucleotide variant (missense variant)	Renal hypodysplasia/aplasia 1	GUncertain significance
Select item 1029736	NM_003638.3(ITGA8):c.158A>G (p.Lys53Arg)	ITGA8 (K53R)	Single nucleotide variant (missense variant)	Renal hypodysplasia/aplasia 1	GUncertain significance
Select item 903431	NM_006953.4(UPK3A):c.732G>A (p.Thr244=)	UPK3A	Single nucleotide variant (synonymous variant)	Renal hypodysplasia/aplasia 1	GUncertain significance
Select item 903368	NM_006953.4(UPK3A):c.272A>T (p.Gln91Leu)	UPK3A (Q91L)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GBenign
Select item 902580	NM_006953.4(UPK3A):c.704+8C>G	UPK3A	Single nucleotide variant (intron variant)	Renal hypodysplasia/aplasia 1	GLikely benign
Select item 900913	NM_006953.4(UPK3A):c.480G>A (p.Thr160=)	UPK3A	Single nucleotide variant (synonymous variant +1 more)	Renal hypodysplasia/aplasia 1	GUncertain significance
Select item 900912	NM_006953.4(UPK3A):c.450C>A (p.Gly150=)	UPK3A	Single nucleotide variant (synonymous variant +1 more)	Renal hypodysplasia/aplasia 1	GUncertain significance
Select item 899813	NM_006953.4(UPK3A):c.*73C>T	UPK3A	Single nucleotide variant (3 prime UTR variant)	Renal hypodysplasia/aplasia 1	GLikely benign
Select item 899760	NM_006953.4(UPK3A):c.417C>T (p.Asn139=)	UPK3A	Single nucleotide variant (synonymous variant +1 more)	Renal hypodysplasia/aplasia 1	GLikely benign
Select item 899759	NM_006953.4(UPK3A):c.361G>T (p.Asp121Tyr)	UPK3A (D121Y)	Single nucleotide variant (missense variant +1 more)	Renal hypodysplasia/aplasia 1	GUncertain significance
Select item 899758	NM_006953.4(UPK3A):c.359G>A (p.Gly120Glu)	UPK3A (G120E)	Single nucleotide variant (missense variant +1 more)	Renal hypodysplasia/aplasia 1	GUncertain significance
Select item 880357	NM_020975.6(RET):c.*1516C>T	RET	Single nucleotide variant (3 prime UTR variant)	Multiple endocrine neoplasia +3 more	GUncertain significance
Select item 880217	NM_020975.6(RET):c.*180G>A	RET	Single nucleotide variant (3 prime UTR variant)	Hirschsprung disease, susceptibility to, 1 +3 more	GUncertain significance
Select item 879260	NM_020975.6(RET):c.*1900C>A	RET	Single nucleotide variant (3 prime UTR variant)	Hirschsprung disease, susceptibility to, 1 +3 more	GUncertain significance
Select item 879101	NM_020975.6(RET):c.*1112A>G	RET	Single nucleotide variant (3 prime UTR variant)	Hirschsprung disease, susceptibility to, 1 +3 more	GUncertain significance
Select item 879000	NM_020975.6(RET):c.*159G>T	RET	Single nucleotide variant (3 prime UTR variant)	Hirschsprung disease, susceptibility to, 1 +3 more	GUncertain significance
Select item 878710	NM_020975.6(RET):c.-51C>T	LOC106736614, RET	Single nucleotide variant (5 prime UTR variant)	Multiple endocrine neoplasia +3 more	GUncertain significance
Select item 878659	NM_020975.6(RET):c.*1886T>G	RET	Single nucleotide variant (3 prime UTR variant)	Hirschsprung disease, susceptibility to, 1 +3 more	GUncertain significance
Select item 878562	NM_020975.6(RET):c.*1430A>G	RET	Single nucleotide variant (3 prime UTR variant)	Renal hypodysplasia/aplasia 1 +4 more	GConflicting classifications of pathogenicity
Select item 878517	NM_020975.6(RET):c.*1046G>C	RET	Single nucleotide variant (3 prime UTR variant)	Renal hypodysplasia/aplasia 1 +4 more	GConflicting classifications of pathogenicity
Select item 878467	NM_020975.6(RET):c.*500C>G	RET	Single nucleotide variant (3 prime UTR variant)	Hirschsprung disease, susceptibility to, 1 +3 more	GUncertain significance
Select item 878084	NM_020975.6(RET):c.1326G>T (p.Leu442=)	RET	Single nucleotide variant (synonymous variant +1 more)	Renal hypodysplasia/aplasia 1 +3 more	GUncertain significance
Select item 877981	NM_020975.6(RET):c.867+4C>G	RET	Single nucleotide variant (intron variant)	Hirschsprung disease, susceptibility to, 1 +3 more	GUncertain significance
Select item 877685	NM_020975.6(RET):c.-160G>T	LOC106736614, RET	Single nucleotide variant (5 prime UTR variant)	not provided +4 more	GBenign/Likely benign
Select item 877684	NM_020975.6(RET):c.-173A>G	LOC106736614, RET	Single nucleotide variant (5 prime UTR variant)	Pheochromocytoma +3 more	GUncertain significance
Select item 877645	NM_020975.6(RET):c.*1812C>A	RET	Single nucleotide variant (3 prime UTR variant)	Pheochromocytoma +3 more	GConflicting classifications of pathogenicity
Select item 877587	NM_020975.6(RET):c.*1533A>G	RET	Single nucleotide variant (3 prime UTR variant)	Hirschsprung disease, susceptibility to, 1 +3 more	GUncertain significance
Select item 877535	NM_020975.6(RET):c.*1326T>C	RET	Single nucleotide variant (3 prime UTR variant)	Multiple endocrine neoplasia +3 more	GConflicting classifications of pathogenicity
Select item 877490	NM_020975.6(RET):c.*883G>A	RET	Single nucleotide variant (3 prime UTR variant)	Hirschsprung disease, susceptibility to, 1 +3 more	GUncertain significance
Select item 877445	NM_020975.6(RET):c.*492G>C	RET	Single nucleotide variant (3 prime UTR variant)	Renal hypodysplasia/aplasia 1 +3 more	GBenign/Likely benign
Select item 877386	NM_020975.6(RET):c.*29C>A	RET	Single nucleotide variant (3 prime UTR variant)	Multiple endocrine neoplasia +4 more	GConflicting classifications of pathogenicity
Select item 877158	NM_020975.6(RET):c.1880-5C>A	RET	Single nucleotide variant (intron variant)	Hirschsprung disease, susceptibility to, 1 +4 more	GUncertain significance
Select item 877094	NM_020975.6(RET):c.1601T>C (p.Leu534Pro)	RET (L534P +12 more)	Single nucleotide variant (missense variant)	Multiple endocrine neoplasia, type 2 +5 more	GUncertain significance
Select item 849703	NM_020975.6(RET):c.1062T>C (p.Tyr354=)	RET	Single nucleotide variant (synonymous variant +1 more)	Multiple endocrine neoplasia, type 2 +4 more	GUncertain significance
Select item 790274	NM_003638.3(ITGA8):c.840T>C (p.Ser280=)	ITGA8	Single nucleotide variant (synonymous variant +1 more)	Renal hypodysplasia/aplasia 1 +1 more	GConflicting classifications of pathogenicity
Select item 781192	NM_003638.3(ITGA8):c.2803G>A (p.Ala935Thr)	ITGA8 (A935T +1 more)	Single nucleotide variant (missense variant)	Renal hypodysplasia/aplasia 1 +1 more	GBenign/Likely benign
Select item 779107	NM_003638.3(ITGA8):c.2977A>G (p.Ile993Val)	ITGA8 (I978V +1 more)	Single nucleotide variant (missense variant)	Renal hypodysplasia/aplasia 1 +1 more	GBenign/Likely benign
Select item 731820	NM_006953.4(UPK3A):c.571+1G>A	UPK3A	Single nucleotide variant (splice donor variant +1 more)	not provided +1 more	GBenign/Likely benign
Select item 721168	NM_006953.4(UPK3A):c.356T>C (p.Ile119Thr)	UPK3A (I119T)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GBenign/Likely benign
Select item 618965	NM_020975.4(RET):c.[2410G>A;2832C>G]	RET (V804M +35 more)	Single nucleotide variant (missense variant)	Medullary thyroid carcinoma	GPathogenic
Select item 580338	NM_020975.6(RET):c.2129A>G (p.Lys710Arg)	RET (K710R +17 more)	Single nucleotide variant (missense variant)	Renal hypodysplasia/aplasia 1 +9 more	GConflicting classifications of pathogenicity
Select item 568416	NM_020975.6(RET):c.484C>T (p.Pro162Ser)	RET (P162S +1 more)	Single nucleotide variant (missense variant)	Renal hypodysplasia/aplasia 1 +4 more	GUncertain significance
Select item 548897	NM_020975.6(RET):c.1649-4G>A	RET	Single nucleotide variant (intron variant)	Pheochromocytoma +7 more	GConflicting classifications of pathogenicity
Select item 543741	NM_020975.6(RET):c.3052C>T (p.Leu1018Phe)	RET (L1018F +17 more)	Single nucleotide variant (missense variant)	not provided +8 more	GConflicting classifications of pathogenicity
Select item 522875	NM_003638.3(ITGA8):c.537C>A (p.Ser179Arg)	ITGA8 (S179R)	Single nucleotide variant (missense variant)	Renal hypodysplasia/aplasia 1	GLikely benign
Select item 486304	NM_020975.6(RET):c.2403C>T (p.Leu801=)	RET	Single nucleotide variant (synonymous variant)	Renal hypodysplasia/aplasia 1 +5 more	GConflicting classifications of pathogenicity
Select item 477383	NM_020975.6(RET):c.718G>C (p.Val240Leu)	RET (V240L +2 more)	Single nucleotide variant (missense variant)	Renal hypodysplasia/aplasia 1 +5 more	GConflicting classifications of pathogenicity
Select item 477379	NM_020975.6(RET):c.603C>T (p.Ser201=)	RET	Single nucleotide variant (synonymous variant +1 more)	Pheochromocytoma +5 more	GConflicting classifications of pathogenicity
Select item 477378	NM_020975.6(RET):c.566G>A (p.Arg189His)	RET (R189H +1 more)	Single nucleotide variant (missense variant)	Pheochromocytoma +5 more	GConflicting classifications of pathogenicity
Select item 477377	NM_020975.6(RET):c.487C>A (p.Arg163=)	RET	Single nucleotide variant (synonymous variant +1 more)	not provided +6 more	GConflicting classifications of pathogenicity
Select item 477358	NM_020975.6(RET):c.2939+7G>A	RET	Single nucleotide variant (intron variant)	Multiple endocrine neoplasia, type 2 +5 more	GConflicting classifications of pathogenicity
Select item 477349	NM_020975.6(RET):c.2418C>T (p.Tyr806=)	RET	Single nucleotide variant (synonymous variant)	not provided +7 more	GBenign/Likely benign
Select item 477327	NM_020975.6(RET):c.1798C>T (p.Arg600Trp)	RET (R600W +12 more)	Single nucleotide variant (missense variant)	Pheochromocytoma +8 more	GConflicting classifications of pathogenicity
Select item 477310	NM_020975.6(RET):c.1264-8C>T	RET	Single nucleotide variant (intron variant)	Hirschsprung disease, susceptibility to, 1 +4 more	GConflicting classifications of pathogenicity
Select item 413457	NM_020975.6(RET):c.1353G>T (p.Thr451=)	RET	Single nucleotide variant (synonymous variant +1 more)	Hereditary cancer-predisposing syndrome +5 more	GBenign/Likely benign
Select item 405554	NM_020975.6(RET):c.628G>A (p.Glu210Lys)	RET (E210K +2 more)	Single nucleotide variant (missense variant)	Pheochromocytoma +7 more	GUncertain significance
Select item 405541	NM_020975.6(RET):c.235C>T (p.Arg79Trp)	RET (R79W)	Single nucleotide variant (missense variant)	not provided +6 more	GConflicting classifications of pathogenicity
Select item 405539	NM_020975.6(RET):c.1165C>T (p.Leu389Phe)	RET (L389F +6 more)	Single nucleotide variant (missense variant)	Multiple endocrine neoplasia, type 2 +5 more	GConflicting classifications of pathogenicity
Select item 378846	NM_006953.4(UPK3A):c.628G>A (p.Val210Ile)	UPK3A (V210I +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GLikely benign
Select item 372091	NM_020975.6(RET):c.1879+13C>T	RET	Single nucleotide variant (intron variant)	Multiple endocrine neoplasia type 2B +6 more	GConflicting classifications of pathogenicity
Select item 372082	NM_020975.6(RET):c.2393-14C>T	RET	Single nucleotide variant (intron variant)	not specified +7 more	GConflicting classifications of pathogenicity
Select item 368899	NM_020975.5(RET):c.-196C>A	LOC106736614, RET	Single nucleotide variant	Renal hypodysplasia/aplasia 1 +4 more	GBenign/Likely benign
Select item 368898	NM_020630.5(RET):c.-200A>G	LOC106736614, RET	Single nucleotide variant	Renal hypodysplasia/aplasia 1 +4 more	GBenign
Select item 341989	NM_006953.4(UPK3A):c.*42C>T	UPK3A	Single nucleotide variant (3 prime UTR variant)	Renal hypodysplasia/aplasia 1	GUncertain significance
Select item 341988	NM_006953.4(UPK3A):c.*26C>T	UPK3A	Single nucleotide variant (3 prime UTR variant)	Renal hypodysplasia/aplasia 1	GLikely benign
Select item 341987	NM_006953.4(UPK3A):c.858A>G (p.Gln286=)	UPK3A	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 341986	NM_006953.4(UPK3A):c.802T>C (p.Ser268Pro)	UPK3A (S268P +1 more)	Single nucleotide variant (missense variant)	Renal hypodysplasia/aplasia 1	GUncertain significance
Select item 341985	NM_006953.4(UPK3A):c.731C>T (p.Thr244Met)	UPK3A (T244M +1 more)	Single nucleotide variant (missense variant)	Renal hypodysplasia/aplasia 1 +2 more	GConflicting classifications of pathogenicity
Select item 341984	NM_006953.4(UPK3A):c.704+8C>A	UPK3A	Single nucleotide variant (intron variant)	Renal hypodysplasia/aplasia 1	GUncertain significance
Select item 341983	NM_006953.4(UPK3A):c.588G>A (p.Thr196=)	UPK3A	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 341982	NM_006953.4(UPK3A):c.560G>A (p.Arg187His)	UPK3A (R187H)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GUncertain significance
Select item 341981	NM_006953.4(UPK3A):c.549A>G (p.Ser183=)	UPK3A	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GBenign
Select item 341980	NM_006953.4(UPK3A):c.545G>A (p.Trp182Ter)	UPK3A (W182*)	Single nucleotide variant (nonsense +1 more)	not provided +1 more	GBenign/Likely benign
Select item 341979	NM_006953.4(UPK3A):c.470C>T (p.Ser157Leu)	UPK3A (S157L)	Single nucleotide variant (missense variant +1 more)	Renal hypodysplasia/aplasia 1	GUncertain significance
Select item 341978	NM_006953.4(UPK3A):c.465C>T (p.Pro155=)	UPK3A	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GBenign
Select item 341977	NM_006953.4(UPK3A):c.460G>C (p.Ala154Pro)	UPK3A (A154P)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GBenign
Select item 341976	NM_006953.4(UPK3A):c.418G>A (p.Gly140Arg)	UPK3A (G140R)	Single nucleotide variant (missense variant +1 more)	Renal hypodysplasia/aplasia 1	GUncertain significance
Select item 341975	NM_006953.4(UPK3A):c.404G>A (p.Arg135Lys)	UPK3A (R135K)	Single nucleotide variant (missense variant +1 more)	Renal hypodysplasia/aplasia 1	GUncertain significance
Select item 341974	NM_006953.4(UPK3A):c.402C>T (p.Val134=)	UPK3A	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GBenign
Select item 341973	NM_006953.4(UPK3A):c.332G>A (p.Ser111Asn)	UPK3A (S111N)	Single nucleotide variant (missense variant +1 more)	UPK3A-related disorder +1 more	GUncertain significance
Select item 341972	NM_006953.4(UPK3A):c.260C>A (p.Ser87Ter)	UPK3A (S87*)	Single nucleotide variant (nonsense +1 more)	not provided +1 more	GBenign/Likely benign
Select item 341971	NM_006953.4(UPK3A):c.259T>G (p.Ser87Ala)	UPK3A (S87A)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GBenign/Likely benign
Select item 341970	NM_006953.4(UPK3A):c.209-11C>T	UPK3A	Single nucleotide variant (intron variant)	Renal hypodysplasia/aplasia 1	GUncertain significance
Select item 341969	NM_006953.4(UPK3A):c.90C>T (p.Phe30=)	UPK3A	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 341968	NM_006953.4(UPK3A):c.-25G>C	LOC130067680, UPK3A	Single nucleotide variant (5 prime UTR variant)	not provided +1 more	GBenign
Select item 341967	NM_006953.4(UPK3A):c.-26C>G	LOC130067680, UPK3A	Single nucleotide variant (5 prime UTR variant)	Renal hypodysplasia/aplasia 1	GUncertain significance
Select item 299945	NM_020975.6(RET):c.*1870C>T	RET	Single nucleotide variant (3 prime UTR variant)	Pheochromocytoma +3 more	GBenign/Likely benign
Select item 299944	NM_020975.6(RET):c.*1797T>G	RET	Single nucleotide variant (3 prime UTR variant)	Multiple endocrine neoplasia +3 more	GUncertain significance
Select item 299943	NM_020975.6(RET):c.*1797T>C	RET	Single nucleotide variant (3 prime UTR variant)	Hirschsprung disease, susceptibility to, 1 +3 more	GUncertain significance

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