6472[geneid] - ClinVar

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Items: 61

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 150740	GRCh38/hg38 12p13.33-q24.33(chr12:121271-133196807)x3	LOC126861648, LOC126861649 +4836 more	Copy number gain	See cases	GPathogenic
Select item 59019	GRCh38/hg38 12q13.3-14.2(chr12:57013355-63042498)x1	AGAP2, AGAP2-AS1 +199 more	Copy number loss	See cases	GPathogenic
Select item 59020	GRCh38/hg38 12q13.3-14.1(chr12:57041158-60273934)x1	AGAP2, AGAP2-AS1 +162 more	Copy number loss	See cases	GPathogenic
Select item 1290032	NC_000012.12:g.57229580A>G	SHMT2	Single nucleotide variant	not provided	GBenign
Select item 1271323	NM_005412.6(SHMT2):c.-43G>A	SHMT2	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GBenign
Select item 2370783	NM_005412.6(SHMT2):c.70A>G (p.Ile24Val)	SHMT2 (I24V +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2520963	NM_005412.6(SHMT2):c.73C>T (p.Arg25Trp)	SHMT2 (R4W +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3161850	NM_005412.6(SHMT2):c.76G>T (p.Ala26Ser)	SHMT2 (A5S +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2370517	NM_005412.6(SHMT2):c.90C>A (p.Asn30Lys)	SHMT2 (N9K +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 3063886	NM_005412.6(SHMT2):c.121_122del (p.Arg41fs)	SHMT2 (R20fs +1 more)	Deletion (frameshift variant +1 more)	not specified	GUncertain significance
Select item 1272337	NM_005412.6(SHMT2):c.149C>T (p.Ser50Leu)	SHMT2 (S29L +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 2602062	NM_005412.6(SHMT2):c.151G>C (p.Asp51His)	SHMT2 (D30H +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1711345	NM_005412.6(SHMT2):c.245G>T (p.Arg82Leu)	SHMT2 (R61L +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 708408	NM_005412.6(SHMT2):c.312-6C>T	SHMT2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3161847	NM_005412.6(SHMT2):c.319G>A (p.Gly107Arg)	SHMT2 (G86R +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3033388	NM_005412.6(SHMT2):c.361C>T (p.Arg121Cys)	SHMT2 (R100C +1 more)	Single nucleotide variant (missense variant +1 more)	SHMT2-related condition	GLikely benign
Select item 1801912	NM_005412.6(SHMT2):c.386T>G (p.Leu129Arg)	SHMT2 (L108R +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2298306	NM_005412.6(SHMT2):c.392C>T (p.Pro131Leu)	SHMT2 (P131L +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1801959	NM_005412.6(SHMT2):c.427G>A (p.Gly143Arg)	SHMT2 (G122R +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3161848	NM_005412.6(SHMT2):c.442C>G (p.Leu148Val)	SHMT2 (L127V +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2412410	NM_005412.6(SHMT2):c.448G>A (p.Val150Ile)	SHMT2 (V150I +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 988636	NM_005412.6(SHMT2):c.469C>T (p.Pro157Ser)	SHMT2 (P157S +1 more)	Single nucleotide variant (missense variant +1 more)	Neurodevelopmental disorder with cardiomyopathy, spasticity, and brain abnormalities	GPathogenic
Select item 1234301	NM_005412.6(SHMT2):c.513-44G>A	SHMT2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1248932	NM_005412.6(SHMT2):c.537C>T (p.Asp179=)	SHMT2	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 988637	NM_005412.6(SHMT2):c.557C>G (p.Thr186Arg)	SHMT2 (T186R +1 more)	Single nucleotide variant (missense variant +1 more)	Neurodevelopmental disorder	GLikely pathogenic
Select item 1711346	NM_005412.6(SHMT2):c.688C>T (p.Arg230Cys)	SHMT2 (R209C +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3161849	NM_005412.6(SHMT2):c.689G>A (p.Arg230His)	SHMT2 (R220H +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2350390	NM_005412.6(SHMT2):c.706C>T (p.Arg236Cys)	SHMT2 (R226C +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2643132	NM_005412.6(SHMT2):c.720G>A (p.Val240=)	SHMT2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2301705	NM_005412.6(SHMT2):c.729A>T (p.Glu243Asp)	SHMT2 (E233D +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1706152	NM_005412.6(SHMT2):c.877C>T (p.Arg293Trp)	SHMT2 (R272W +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3161851	NM_005412.6(SHMT2):c.895G>A (p.Val299Met)	SHMT2 (V299M +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1291792	NM_005412.6(SHMT2):c.969G>T (p.Leu323=)	SHMT2	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 2402778	NM_005412.6(SHMT2):c.977G>T (p.Gly326Val)	SHMT2 (G316V +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2545842	NM_005412.6(SHMT2):c.1042C>T (p.Arg348Trp)	SHMT2 (R327W +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2576800	NM_005412.6(SHMT2):c.1075C>T (p.Arg359Trp)	SHMT2 (R338W +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2294908	NM_005412.6(SHMT2):c.1123+5G>A	SHMT2	Single nucleotide variant (intron variant)	Inborn genetic diseases	GUncertain significance
Select item 988634	NM_005412.6(SHMT2):c.1124-4_1126delinsA	SHMT2	Indel (splice acceptor variant)	Neurodevelopmental disorder with cardiomyopathy, spasticity, and brain abnormalities	GPathogenic
Select item 2275495	NM_005412.6(SHMT2):c.1124G>C (p.Gly375Ala)	SHMT2 (G365A +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1706368	NM_005412.6(SHMT2):c.1132G>C (p.Asp378His)	SHMT2 (D357H +2 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 1065620	NM_005412.6(SHMT2):c.1133A>G (p.Asp378Gly)	SHMT2 (D357G +2 more)	Single nucleotide variant (missense variant +1 more)	SHMT2-related condition +1 more	GConflicting classifications of pathogenicity
Select item 988638	NM_005412.6(SHMT2):c.1135A>G (p.Asn379Asp)	SHMT2 (N379D +2 more)	Single nucleotide variant (missense variant +1 more)	Neurodevelopmental disorder	GLikely pathogenic
Select item 1049987	NM_005412.6(SHMT2):c.1183C>T (p.Arg395Trp)	SHMT2 (R374W +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 988633	NM_005412.6(SHMT2):c.1267G>A (p.Gly423Ser)	SHMT2 (G423S +2 more)	Single nucleotide variant (missense variant +1 more)	Neurodevelopmental disorder with cardiomyopathy, spasticity, and brain abnormalities	GPathogenic
Select item 1230678	NM_005412.6(SHMT2):c.1279+30G>A	SHMT2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2502588	NM_005412.6(SHMT2):c.1300C>T (p.Arg434Ter)	SHMT2 (R413* +2 more)	Single nucleotide variant (nonsense +1 more)	SHMT2-related condition +1 more	GUncertain significance
Select item 988635	NM_005412.6(SHMT2):c.1304A>C (p.Gln435Pro)	SHMT2 (Q435P +2 more)	Single nucleotide variant (missense variant +1 more)	Neurodevelopmental disorder with cardiomyopathy, spasticity, and brain abnormalities	GPathogenic
Select item 2371292	NM_005412.6(SHMT2):c.1324C>T (p.Arg442Trp)	SHMT2 (R432W +2 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 2211287	NM_005412.6(SHMT2):c.1360A>G (p.Ile454Val)	SHMT2 (I444V +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2297959	NM_005412.6(SHMT2):c.1422G>C (p.Lys474Asn)	SHMT2 (K464N +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2402920	NM_005412.6(SHMT2):c.1441C>T (p.Arg481Cys)	SHMT2 (R460C +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3039981	NM_005412.6(SHMT2):c.1442G>A (p.Arg481His)	SHMT2 (R460H +2 more)	Single nucleotide variant (missense variant +1 more)	SHMT2-related condition	GLikely benign
Select item 2265236	NM_005412.6(SHMT2):c.1462C>T (p.Arg488Trp)	SHMT2 (R478W +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 988632	NM_005412.6(SHMT2):c.1495C>G (p.Pro499Ala)	SHMT2 (P499A +2 more)	Single nucleotide variant (missense variant +1 more)	Neurodevelopmental disorder with cardiomyopathy, spasticity, and brain abnormalities	GLikely pathogenic
Select item 2498574	GRCh37/hg19 12q13.3-14.1(chr12:57064059-59314016)x1	AGAP2, ARHGAP9 +45 more	Copy number loss	not provided	GLikely pathogenic
Select item 2422308	NC_000012.11:g.(?_57534470)_(58190366_?)dup	AGAP2, ARHGAP9 +27 more	Duplication	Familial melanoma	GUncertain significance
Select item 815529	GRCh37/hg19 12q13.3-14.1(chr12:57582163-59031979)x1	AGAP2, ARHGAP9 +31 more	Copy number loss	not provided	GLikely pathogenic
Select item 815528	GRCh37/hg19 12q13.2-14.1(chr12:55552371-62126304)x3	AGAP2, ANKRD52 +105 more	Copy number gain	not provided	GPathogenic
Select item 441984	GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)	HMGA2, HNF1A +1006 more	Copy number gain	See cases	GPathogenic
Select item 441983	GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)x3	A2M, A2ML1 +1006 more	Copy number gain	See cases	GPathogenic
Select item 268075	GRCh37/hg19 12p13.33-q24.33(chr12:1-133851895)x3	AGAP2, ARF3 +1007 more	Copy number gain	See cases	GPathogenic

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Items: 61