18081[HGNC] - ClinVar

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Items: 63

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 150740	GRCh38/hg38 12p13.33-q24.33(chr12:121271-133196807)x3	ACAD10, ACADS +4836 more	Copy number gain	See cases	GPathogenic
Select item 150076	GRCh38/hg38 12q14.1-14.3(chr12:60907151-66568077)x1	AVPR1A, C12orf56 +144 more	Copy number loss	See cases	GPathogenic
Select item 3235055	GRCh38/hg38 12q14.2-15(chr12:63871239-67314524)	LOC124629394, LOC124629395 +108 more	Copy number loss	Silver-Russell syndrome 5	GUncertain significance
Select item 746947	NM_007191.5(WIF1):c.1104G>A (p.Glu368=)	WIF1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3333101	NM_007191.5(WIF1):c.1099G>A (p.Glu367Lys)	WIF1 (E367K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3333100	NM_007191.5(WIF1):c.1097C>T (p.Ala366Val)	WIF1 (A366V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3190542	NM_007191.5(WIF1):c.1085C>T (p.Ser362Leu)	WIF1 (S362L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 710452	NM_007191.5(WIF1):c.1081C>A (p.Pro361Thr)	WIF1 (P361T)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2603728	NM_007191.5(WIF1):c.1078A>G (p.Thr360Ala)	WIF1 (T360A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3190541	NM_007191.5(WIF1):c.1040A>G (p.His347Arg)	WIF1 (H347R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 712180	NM_007191.5(WIF1):c.981A>G (p.Gln327=)	WIF1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3190546	NM_007191.5(WIF1):c.946G>A (p.Ala316Thr)	WIF1 (A316T)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 1236341	NM_007191.5(WIF1):c.930C>T (p.Cys310=)	WIF1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1266554	NM_007191.5(WIF1):c.923-78T>C	WIF1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1222654	NM_007191.5(WIF1):c.922+69A>G	WIF1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3190545	NM_007191.5(WIF1):c.921G>T (p.Lys307Asn)	WIF1 (K307N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2608759	NM_007191.5(WIF1):c.908A>T (p.Asp303Val)	WIF1 (D303V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3333103	NM_007191.5(WIF1):c.827G>T (p.Ser276Ile)	WIF1 (S276I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1181766	NM_007191.5(WIF1):c.827-152dup	WIF1	Duplication (intron variant)	not provided	GBenign
Select item 2620749	NM_007191.5(WIF1):c.787A>G (p.Ile263Val)	WIF1 (I263V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1278731	NM_007191.5(WIF1):c.731-109T>C	WIF1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1287191	NM_007191.5(WIF1):c.730+53T>C	WIF1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2248208	NM_007191.5(WIF1):c.686T>C (p.Phe229Ser)	WIF1 (F229S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1280486	NM_007191.5(WIF1):c.635-163A>G	WIF1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1228551	NM_007191.5(WIF1):c.634+18T>C	WIF1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 981866	NM_007191.5(WIF1):c.608G>A (p.Gly203Glu)	WIF1 (G203E)	Single nucleotide variant (missense variant)	Hereditary breast ovarian cancer syndrome	GUncertain significance
Select item 2275852	NM_007191.5(WIF1):c.605A>G (p.Asp202Gly)	WIF1 (D202G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2265848	NM_007191.5(WIF1):c.560G>A (p.Arg187Gln)	WIF1 (R187Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1284111	NM_007191.5(WIF1):c.538+79CA[21]	WIF1	Microsatellite (intron variant)	not provided	GBenign
Select item 1260370	NM_007191.5(WIF1):c.538+79CA[20]	WIF1	Microsatellite (intron variant)	not provided	GBenign
Select item 1258144	NM_007191.5(WIF1):c.538+79CA[19]	WIF1	Microsatellite (intron variant)	not provided	GBenign
Select item 1297944	NM_007191.5(WIF1):c.538+79CA[16]	WIF1	Microsatellite (intron variant)	not provided	GBenign
Select item 1250261	NM_007191.5(WIF1):c.538+79CA[17]	WIF1	Microsatellite (intron variant)	not provided	GBenign
Select item 1245221	NM_007191.5(WIF1):c.538+79CA[13]	WIF1	Microsatellite (intron variant)	not provided	GBenign
Select item 2252058	NM_007191.5(WIF1):c.491T>C (p.Ile164Thr)	WIF1 (I164T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2242396	NM_007191.5(WIF1):c.488C>A (p.Thr163Asn)	WIF1 (T163N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1286419	NM_007191.5(WIF1):c.459T>C (p.Asp153=)	WIF1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1283557	NM_007191.5(WIF1):c.398-76T>C	WIF1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1243665	NM_007191.5(WIF1):c.397+59T>C	WIF1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1252468	NM_007191.5(WIF1):c.289-146G>T	WIF1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 733506	NM_007191.5(WIF1):c.244G>C (p.Val82Leu)	WIF1 (V82L)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1269441	NM_007191.5(WIF1):c.219A>G (p.Ala73=)	WIF1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2533270	NM_007191.5(WIF1):c.218C>A (p.Ala73Glu)	WIF1 (A73E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3190543	NM_007191.5(WIF1):c.193C>T (p.Pro65Ser)	WIF1 (P65S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1289928	NM_007191.5(WIF1):c.149-202C>G	WIF1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1288075	NM_007191.5(WIF1):c.149-234T>C	WIF1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1297943	NM_007191.5(WIF1):c.148+106C>T	WIF1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2384356	NM_007191.5(WIF1):c.139G>T (p.Val47Leu)	WIF1 (V47L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2362300	NM_007191.5(WIF1):c.82G>A (p.Ala28Thr)	WIF1 (A28T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 453256	NM_007191.5(WIF1):c.45G>A (p.Trp15Ter)	WIF1	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 3333102	NM_007191.5(WIF1):c.7C>T (p.Arg3Trp)	WIF1 (R3W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1178293	NC_000012.12:g.65121602G>A	LOC130008221, WIF1	Single nucleotide variant	not provided	GBenign
Select item 1252788	NC_000012.12:g.65121614dup	LOC130008221, WIF1	Duplication	not provided	GBenign
Select item 3244245	NC_000012.11:g.(?_64173741)_(68052493_?)del	DYRK2, GNS +18 more	Deletion	Mucopolysaccharidosis, MPS-III-D	GPathogenic
Select item 3063238	GRCh37/hg19 12q14.3(chr12:65462762-66830065)x1	GRIP1, HELB +7 more	Copy number loss	not specified	GPathogenic
Select item 2685437	GRCh37/hg19 12q14.1-15(chr12:61755618-70035424)x1	AVPR1A, C12orf56 +40 more	Copy number loss	not provided	GPathogenic
Select item 2425940	NC_000012.11:g.(?_64849651)_(65857102_?)del	GNS, LEMD3 +5 more	Deletion	not provided	GPathogenic
Select item 1879249	GRCh37/hg19 12q14.2-15(chr12:64609458-70352103)x1	BEST3, C12orf56 +34 more	Copy number loss	not provided	GPathogenic
Select item 1180525	GRCh37/hg19 12q14.3-21.1(chr12:65251705-75263379)x1	CAND1, RAB3IP +42 more	Copy number loss	not provided	GPathogenic
Select item 815532	GRCh37/hg19 12q14.2-14.3(chr12:65029704-65589195)x3	RASSF3, LEMD3 +3 more	Copy number gain	not provided	GUncertain significance
Select item 441984	GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)	SLC15A5, SLC16A7 +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	GALNT8, H2AJ +1007 more	Copy number gain	See cases	GPathogenic

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Items: 63