ClinVar for MedGen (Select 924576) - ClinVar

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Items: 50

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3068441	NM_017654.4(SAMD9):c.1922T>G (p.Leu641Arg)	SAMD9 (L641R)	Single nucleotide variant (missense variant)	MIRAGE syndrome	GLikely pathogenic
Select item 2671833	NM_017654.4(SAMD9):c.976del (p.Gln326fs)	SAMD9 (Q326fs)	Deletion (frameshift variant)	MIRAGE syndrome	GLikely pathogenic
Select item 2663808	NM_017654.4(SAMD9):c.2603A>C (p.Lys868Thr)	SAMD9 (K868T)	Single nucleotide variant (missense variant)	MIRAGE syndrome	GLikely pathogenic
Select item 2441798	NM_017654.4(SAMD9):c.4690G>A (p.Gly1564Ser)	SAMD9 (G1564S)	Single nucleotide variant (missense variant)	MIRAGE syndrome	GLikely pathogenic
Select item 1902140	NM_017654.4(SAMD9):c.3548C>T (p.Pro1183Leu)	SAMD9 (P1183L)	Single nucleotide variant (missense variant)	MIRAGE syndrome +1 more	GUncertain significance
Select item 1806487	NM_017654.4(SAMD9):c.1253A>G (p.Asn418Ser)	SAMD9 (N418S)	Single nucleotide variant (missense variant)	MIRAGE syndrome +1 more	GUncertain significance
Select item 1805997	NM_017654.4(SAMD9):c.200T>G (p.Ile67Arg)	SAMD9 (I67R)	Single nucleotide variant (missense variant)	MIRAGE syndrome	GUncertain significance
Select item 1803127	NM_017654.4(SAMD9):c.2414A>G (p.Asp805Gly)	SAMD9 (D805G)	Single nucleotide variant (missense variant)	MIRAGE syndrome	GLikely pathogenic
Select item 1710957	NM_017654.4(SAMD9):c.2645T>G (p.Phe882Cys)	SAMD9 (F882C)	Single nucleotide variant (missense variant)	MIRAGE syndrome +1 more	GUncertain significance
Select item 1696565	NM_017654.4(SAMD9):c.1052A>G (p.Asp351Gly)	SAMD9 (D351G)	Single nucleotide variant (missense variant)	MIRAGE syndrome	GUncertain significance
Select item 1691291	NM_017654.4(SAMD9):c.843G>C (p.Lys281Asn)	SAMD9 (K281N)	Single nucleotide variant (missense variant)	MIRAGE syndrome	GUncertain significance
Select item 1679793	NM_017654.4(SAMD9):c.893C>T (p.Thr298Ile)	SAMD9 (T298I)	Single nucleotide variant (missense variant)	MIRAGE syndrome	GUncertain significance
Select item 1675125	NM_017654.4(SAMD9):c.2960T>C (p.Leu987Ser)	SAMD9 (L987S)	Single nucleotide variant (missense variant)	SAMD9-related disorder +2 more	GUncertain significance
Select item 1675124	NM_017654.4(SAMD9):c.1252A>G (p.Asn418Asp)	SAMD9 (N418D)	Single nucleotide variant (missense variant)	MIRAGE syndrome +1 more	GUncertain significance
Select item 1648073	NM_017654.4(SAMD9):c.4413G>A (p.Met1471Ile)	SAMD9 (M1471I)	Single nucleotide variant (missense variant)	MIRAGE syndrome +3 more	GConflicting classifications of pathogenicity
Select item 1599253	NM_017654.4(SAMD9):c.1812A>G (p.Gln604=)	SAMD9	Single nucleotide variant (synonymous variant)	not provided +3 more	GBenign/Likely benign
Select item 1506133	NM_017654.4(SAMD9):c.29del (p.Asn10fs)	SAMD9 (N10fs)	Deletion (frameshift variant)	MIRAGE syndrome +3 more	GUncertain significance
Select item 1376031	NM_017654.4(SAMD9):c.3649T>C (p.Phe1217Leu)	SAMD9 (F1217L)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1343336	NM_017654.4(SAMD9):c.2471G>A (p.Arg824Gln)	SAMD9	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic
Select item 1342633	NM_017654.4(SAMD9):c.984C>A (p.Tyr328Ter)	SAMD9 (Y328*)	Single nucleotide variant (nonsense)	MIRAGE syndrome	GUncertain significance
Select item 1338121	NM_017654.4(SAMD9):c.3725C>T (p.Pro1242Leu)	SAMD9 (P1242L)	Single nucleotide variant (missense variant)	MIRAGE syndrome +2 more	GUncertain significance
Select item 1337472	NM_017654.4(SAMD9):c.3403A>G (p.Ile1135Val)	SAMD9 (I1135V)	Single nucleotide variant (missense variant)	Normophosphatemic familial tumoral calcinosis +4 more	GUncertain significance
Select item 1337225	NM_017654.4(SAMD9):c.229A>G (p.Thr77Ala)	SAMD9 (T77A)	Single nucleotide variant (missense variant)	MIRAGE syndrome +2 more	GUncertain significance
Select item 1333812	NM_017654.4(SAMD9):c.542T>G (p.Leu181Arg)	SAMD9 (L181R)	Single nucleotide variant (missense variant)	MIRAGE syndrome	GUncertain significance
Select item 1320292	NM_017654.4(SAMD9):c.3322C>T (p.Gln1108Ter)	SAMD9 (Q1108*)	Single nucleotide variant (nonsense)	MIRAGE syndrome +1 more	GUncertain significance
Select item 1320287	NM_017654.4(SAMD9):c.2071T>C (p.Trp691Arg)	SAMD9 (W691R)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 1174761	NM_017654.4(SAMD9):c.2686T>C (p.Tyr896His)	SAMD9 (Y896H)	Single nucleotide variant (missense variant)	MIRAGE syndrome +3 more	GConflicting classifications of pathogenicity
Select item 1043583	NM_017654.4(SAMD9):c.2053C>T (p.Arg685Ter)	SAMD9 (R685*)	Single nucleotide variant (nonsense)	not provided +2 more	GUncertain significance
Select item 1029634	NM_017654.4(SAMD9):c.3728_3731del (p.Asn1243fs)	SAMD9 (N1243fs)	Deletion (frameshift variant)	MIRAGE syndrome +1 more	GConflicting classifications of pathogenicity
Select item 1029633	NM_017654.4(SAMD9):c.2795C>T (p.Thr932Ile)	SAMD9 (T932I)	Single nucleotide variant (missense variant)	MIRAGE syndrome	GLikely pathogenic
Select item 1029632	NM_017654.4(SAMD9):c.1310T>G (p.Phe437Cys)	SAMD9 (F437C)	Single nucleotide variant (missense variant)	MIRAGE syndrome	GLikely pathogenic
Select item 1018161	NM_017654.4(SAMD9):c.3525T>G (p.Tyr1175Ter)	SAMD9 (Y1175*)	Single nucleotide variant (nonsense)	MIRAGE syndrome +1 more	GUncertain significance
Select item 992633	NM_017654.4(SAMD9):c.3878G>A (p.Arg1293Gln)	SAMD9 (R1293Q)	Single nucleotide variant (missense variant)	SAMD9-related disorder	GPathogenic
Select item 985307	NM_017654.4(SAMD9):c.2944C>T (p.Arg982Cys)	SAMD9 (R982C)	Single nucleotide variant (missense variant)	Inborn genetic diseases +4 more	GConflicting classifications of pathogenicity
Select item 981514	NM_017654.4(SAMD9):c.1058C>T (p.Thr353Met)	SAMD9 (T353M)	Single nucleotide variant (missense variant)	MIRAGE syndrome +1 more	GConflicting classifications of pathogenicity
Select item 800552	NM_017654.4(SAMD9):c.2247C>A (p.His749Gln)	SAMD9 (H749Q)	Single nucleotide variant (missense variant)	MIRAGE syndrome	GLikely pathogenic
Select item 788817	NM_017654.4(SAMD9):c.1347T>C (p.Asn449=)	SAMD9	Single nucleotide variant (synonymous variant)	not specified +4 more	GBenign/Likely benign
Select item 777829	NM_017654.4(SAMD9):c.3008A>G (p.Asn1003Ser)	SAMD9 (N1003S)	Single nucleotide variant (missense variant)	not provided +5 more	GLikely benign
Select item 769723	NM_017654.4(SAMD9):c.4733T>C (p.Ile1578Thr)	SAMD9 (I1578T)	Single nucleotide variant (missense variant)	not specified +5 more	GBenign/Likely benign
Select item 731185	NM_017654.4(SAMD9):c.1860A>G (p.Lys620=)	SAMD9	Single nucleotide variant (synonymous variant)	not specified +4 more	GBenign/Likely benign
Select item 716003	NM_017654.4(SAMD9):c.1880del (p.Ser627fs)	SAMD9 (S627fs)	Deletion (frameshift variant)	SAMD9-related disorder +3 more	GConflicting classifications of pathogenicity
Select item 634460	NM_017654.4(SAMD9):c.2198T>C (p.Ile733Thr)	SAMD9 (I733T)	Single nucleotide variant (missense variant)	Normophosphatemic familial tumoral calcinosis +1 more	GUncertain significance
Select item 587617	NM_017654.4(SAMD9):c.2159del (p.Asn720fs)	SAMD9 (N720fs)	Deletion (frameshift variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 559913	NM_017654.4(SAMD9):c.2945G>A (p.Arg982His)	SAMD9 (R982H)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 554715	NM_017654.4(SAMD9):c.3651dup (p.Asp1218Ter)	SAMD9 (D1218*)	Duplication (nonsense)	Monosomy 7 myelodysplasia and leukemia syndrome 2 +5 more	GBenign/Likely benign
Select item 521232	NM_017654.4(SAMD9):c.2920G>A (p.Glu974Lys)	SAMD9 (E974K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GPathogenic
Select item 421898	NM_017654.4(SAMD9):c.2054G>A (p.Arg685Gln)	SAMD9 (R685Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GPathogenic
Select item 253153	NM_017654.4(SAMD9):c.3877C>T (p.Arg1293Trp)	SAMD9 (R1293W)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 253152	NM_017654.4(SAMD9):c.2305G>A (p.Asp769Asn)	SAMD9 (D769N)	Single nucleotide variant (missense variant)	MIRAGE syndrome	GPathogenic
Select item 253151	NM_017654.4(SAMD9):c.1376G>A (p.Arg459Gln)	SAMD9 (R459Q)	Single nucleotide variant (missense variant)	not provided	GPathogenic

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Items: 50