6430[HGNC] - ClinVar

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Items: 53

	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 153751	GRCh38/hg38 12q13.12-13.13(chr12:50122359-53248460)x1	LOC130007898, LOC130007899 +206 more	Copy number loss	See cases	GPathogenic
Select item 149659	GRCh38/hg38 12q13.13(chr12:52748391-52950618)x3	KRT18, KRT3 +15 more	Copy number gain	See cases	GLikely benign
Select item 148968	GRCh38/hg38 12q13.13(chr12:52851850-53558824)x3	AAAS, AMHR2 +85 more	Copy number gain	See cases	GLikely pathogenic
Select item 66130	NM_000224.3(KRT18):c.-15C>T	KRT18, KRT8 +1 more	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	Gnot provided
Select item 3116347	NM_000224.3(KRT18):c.11C>T (p.Thr4Ile)	KRT18, KRT8 +1 more (T4I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2643037	NM_000224.3(KRT18):c.57C>T (p.Val19=)	KRT18, KRT8 +1 more	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3116351	NM_000224.3(KRT18):c.83C>T (p.Pro28Leu)	KRT18, KRT8 +1 more (P28L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2227061	NM_000224.3(KRT18):c.107A>C (p.Tyr36Ser)	KRT18, KRT8 +1 more (Y36S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 56167	NM_000224.3(KRT18):c.134G>C (p.Arg45Pro)	KRT18, KRT8 +1 more (R45P)	Single nucleotide variant (missense variant +1 more)	Hepatitis C virus, susceptibility to	Gnot provided
Select item 1301593	NM_000224.3(KRT18):c.174_175insA (p.Gly59fs)	KRT18, KRT8 +1 more (G59fs)	Insertion (frameshift variant +1 more)	not specified	GBenign
Select item 66133	NM_000224.3(KRT18):c.193_216del (p.Thr65_Ala72del)	KRT18, KRT8 +1 more	Deletion (intron variant)	not provided	Gnot provided
Select item 1029724	NM_000224.3(KRT18):c.206G>C (p.Gly69Ala)	LOC106096416, KRT18 +1 more (G69A)	Single nucleotide variant (missense variant +1 more)	Cirrhosis, familial +1 more	GUncertain significance
Select item 1205845	NM_000224.3(KRT18):c.268C>T (p.Arg90Cys)	LOC106096416, KRT18 +1 more (R90C)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 1205843	NM_000224.3(KRT18):c.274G>C (p.Ala92Pro)	KRT18, KRT8 +1 more (A92P)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 56166	NM_000224.3(KRT18):c.282C>T (p.Tyr94=)	KRT18, KRT8 +1 more	Single nucleotide variant (synonymous variant +1 more)	Hepatitis C virus, susceptibility to	Gnot provided
Select item 1205851	NM_000224.3(KRT18):c.300C>G (p.Ser100Arg)	KRT18, KRT8 +1 more (S100R)	Single nucleotide variant (non-coding transcript variant +2 more)	not provided	GBenign
Select item 66134	NM_000224.3(KRT18):c.307A>G (p.Thr103Ala)	KRT18, KRT8 +1 more (T103A)	Single nucleotide variant (non-coding transcript variant +2 more)	not provided	Gnot provided
Select item 2512354	NM_000224.3(KRT18):c.356A>G (p.Lys119Arg)	KRT18, KRT8 +1 more (K119R)	Single nucleotide variant (non-coding transcript variant +2 more)	not specified	GUncertain significance
Select item 14585	NM_000224.3(KRT18):c.383A>T (p.His128Leu)	KRT18, KRT8 +1 more (H128L)	Single nucleotide variant (non-coding transcript variant +2 more)	Cirrhosis, cryptogenic +1 more	GPathogenic; risk factor
Select item 66135	NM_000224.3(KRT18):c.418-4C>G	KRT18, LOC106096416	Single nucleotide variant (intron variant)	not provided	Gnot provided
Select item 66136	NM_000224.3(KRT18):c.448A>G (p.Ile150Val)	KRT18, LOC106096416 (I150V)	Single nucleotide variant (missense variant)	not provided	Gnot provided
Select item 66137	NM_000224.3(KRT18):c.500+38G>A	KRT18, LOC106096416	Single nucleotide variant (intron variant)	not provided	Gnot provided
Select item 3289349	NM_000224.3(KRT18):c.518C>G (p.Ala173Gly)	KRT18, LOC106096416 (A173G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1029725	NM_000224.3(KRT18):c.541G>A (p.Asp181Asn)	KRT18, LOC106096416 (D181N)	Single nucleotide variant (missense variant)	Cirrhosis, familial	GUncertain significance
Select item 2234332	NM_000224.3(KRT18):c.553C>T (p.Leu185Phe)	KRT18, LOC106096416 (L185F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2322154	NM_000224.3(KRT18):c.557G>A (p.Arg186His)	KRT18, LOC106096416 (R186H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3116349	NM_000224.3(KRT18):c.561G>T (p.Lys187Asn)	KRT18, LOC106096416 (K187N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3062140	NM_000224.3(KRT18):c.599A>G (p.Glu200Gly)	KRT18, LOC106096416 (E200G)	Single nucleotide variant (missense variant)	Cirrhosis, familial	GUncertain significance
Select item 66138	NM_000224.3(KRT18):c.689G>C (p.Ser230Thr)	KRT18, LOC106096416 (S230T)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 3116350	NM_000224.3(KRT18):c.772G>A (p.Glu258Lys)	KRT18, LOC106096416 (E258K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 66139	NM_000224.3(KRT18):c.782G>A (p.Arg261Gln)	KRT18, LOC106096416 (R261Q)	Single nucleotide variant (missense variant)	not provided	Gnot provided
Select item 726425	NM_000224.3(KRT18):c.822+5G>A	KRT18, LOC106096416	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 66140	NM_000224.3(KRT18):c.827A>G (p.Glu276Gly)	KRT18, LOC106096416 (E276G)	Single nucleotide variant (missense variant)	not provided	Gnot provided
Select item 66141	NM_000224.3(KRT18):c.854A>G (p.Gln285Arg)	KRT18, LOC106096416 (Q285R)	Single nucleotide variant (missense variant)	not provided	Gnot provided
Select item 66142	NM_000224.3(KRT18):c.884C>T (p.Thr295Met)	KRT18, LOC106096416 (T295M)	Single nucleotide variant (missense variant)	not provided	Gnot provided
Select item 66143	NM_000224.3(KRT18):c.890C>T (p.Thr297Ile)	KRT18, LOC106096416 (T297I)	Single nucleotide variant (missense variant)	not provided	Gnot provided
Select item 2550679	NM_000224.3(KRT18):c.910C>G (p.Gln304Glu)	KRT18, LOC106096416 (Q304E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2250720	NM_000224.3(KRT18):c.989G>A (p.Arg330His)	KRT18, LOC106096416 (R330H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 66144	NM_000224.3(KRT18):c.993C>T (p.Tyr331=)	KRT18, LOC106096416	Single nucleotide variant (synonymous variant)	not provided	Gnot provided
Select item 66131	NM_000224.3(KRT18):c.1018G>A (p.Gly340Arg)	KRT18, LOC106096416 (G340R)	Single nucleotide variant (missense variant)	not provided	Gnot provided
Select item 3116344	NM_000224.3(KRT18):c.1057C>T (p.Arg353Trp)	KRT18, LOC106096416 (R353W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2465784	NM_000224.3(KRT18):c.1142G>A (p.Arg381His)	KRT18, LOC106096416 (R381H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3289348	NM_000224.3(KRT18):c.1162G>A (p.Glu388Lys)	KRT18, LOC106096416 (E388K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3116346	NM_000224.3(KRT18):c.1184C>T (p.Ala395Val)	KRT18, LOC106096416 (A395V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 56165	NM_000224.3(KRT18):c.1230C>G (p.Thr410=)	KRT18, LOC106096416	Single nucleotide variant (synonymous variant)	Hepatitis C virus, susceptibility to	Gnot provided
Select item 66132	NM_000224.3(KRT18):c.1232G>A (p.Arg411His)	KRT18, LOC106096416 (R411H)	Single nucleotide variant (missense variant)	not provided	Gnot provided
Select item 3116348	NM_000224.3(KRT18):c.1268A>G (p.Asn423Ser)	KRT18, LOC106096416 (N423S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2242914	NM_000224.3(KRT18):c.1277A>C (p.Lys426Thr)	KRT18, LOC106096416 (K426T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 524190	NC_000012.11:g.26370251_54361538inv	BICD1, HDAC7 +212 more	Inversion	not specified	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: 53