MUC19[gene] - ClinVar

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Items: 54

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 150740	GRCh38/hg38 12p13.33-q24.33(chr12:121271-133196807)x3	FERRY3, FGD4 +4837 more	Copy number gain	See cases	GPathogenic
Select item 58210	GRCh38/hg38 12q12(chr12:39651727-41240339)x3	CNTN1, LINC01779 +25 more	Copy number gain	See cases	GUncertain significance
Select item 2642854	NC_000012.12:g.40406049C>T	MUC19	Single nucleotide variant	not provided	GLikely benign
Select item 2642855	NC_000012.12:g.40408359A>G	MUC19	Single nucleotide variant	not provided	GLikely benign
Select item 2642856	NC_000012.12:g.40416343T>A	MUC19	Single nucleotide variant	not provided	GLikely benign
Select item 2642857	NC_000012.12:g.40416346A>G	MUC19	Single nucleotide variant	not provided	GLikely benign
Select item 2642858	NC_000012.12:g.40418143G>A	MUC19	Single nucleotide variant	not provided	GLikely benign
Select item 2642859	NC_000012.12:g.40431657G>A	MUC19	Single nucleotide variant	not provided	GLikely benign
Select item 2642860	NC_000012.12:g.40436694G>A	MUC19	Single nucleotide variant	not provided	GLikely benign
Select item 2642861	NC_000012.12:g.40441144C>T	MUC19	Single nucleotide variant	not provided	GLikely benign
Select item 2642862	NC_000012.12:g.40444415G>A	MUC19	Single nucleotide variant	not provided	GLikely benign
Select item 2642863	NC_000012.12:g.40450688G>A	MUC19	Single nucleotide variant	not provided	GLikely benign
Select item 2642864	NC_000012.12:g.40465588T>C	MUC19	Single nucleotide variant	not provided	GLikely benign
Select item 2642865	NC_000012.12:g.40479450G>A	MUC19	Single nucleotide variant	not provided	GLikely benign
Select item 2642866	NC_000012.12:g.40480581T>C	MUC19	Single nucleotide variant	not provided	GLikely benign
Select item 2642867	NC_000012.12:g.40482027G>A	MUC19	Single nucleotide variant	not provided	GLikely benign
Select item 2642868	NC_000012.12:g.40484892A>T	MUC19	Single nucleotide variant	not provided	GLikely benign
Select item 2642869	NC_000012.12:g.40485730G>A	MUC19	Single nucleotide variant	not provided	GLikely benign
Select item 2642870	NC_000012.12:g.40485746C>T	MUC19	Single nucleotide variant	not provided	GLikely benign
Select item 2642871	NC_000012.12:g.40485799A>T	MUC19	Single nucleotide variant	not provided	GLikely benign
Select item 2642872	NC_000012.12:g.40486351T>G	MUC19	Single nucleotide variant	not provided	GLikely benign
Select item 2642873	NC_000012.12:g.40486513G>T	MUC19	Single nucleotide variant	not provided	GLikely benign
Select item 2642874	NC_000012.12:g.40486582A>G	MUC19	Single nucleotide variant	not provided	GLikely benign
Select item 2642875	NC_000012.12:g.40489375A>G	MUC19	Single nucleotide variant	not provided	GLikely benign
Select item 3067314	NC_000012.12:g.40489900A>T	MUC19	Single nucleotide variant	not provided	GLikely benign
Select item 3067355	NC_000012.12:g.40490410A>T	MUC19	Single nucleotide variant	not provided	GLikely benign
Select item 2642876	NC_000012.12:g.40490503G>C	MUC19	Single nucleotide variant	not provided	GLikely benign
Select item 2642877	NC_000012.12:g.40491184A>C	MUC19	Single nucleotide variant	not provided	GLikely benign
Select item 2642878	NC_000012.12:g.40501181C>A	MUC19	Single nucleotide variant	not provided	GLikely benign
Select item 2642879	NC_000012.12:g.40501199C>A	MUC19	Single nucleotide variant	not provided	GLikely benign
Select item 2642880	NC_000012.12:g.40506286C>T	MUC19	Single nucleotide variant	not provided	GLikely benign
Select item 2642881	NC_000012.12:g.40507004C>T	MUC19	Single nucleotide variant	not provided	GLikely benign
Select item 2642882	NC_000012.12:g.40511005C>A	MUC19	Single nucleotide variant	not provided	GLikely benign
Select item 2642883	NC_000012.12:g.40515178C>A	MUC19	Single nucleotide variant	not provided	GLikely benign
Select item 2642884	NC_000012.12:g.40537672G>A	MUC19	Single nucleotide variant	not provided	GLikely benign
Select item 2642885	NC_000012.12:g.40541834A>G	MUC19	Single nucleotide variant	not provided	GLikely benign
Select item 2642886	NM_173600.2(MUC19):c.23136G>A (p.Val7712=)	MUC19	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2642887	NM_173600.2(MUC19):c.24297C>T (p.Val8099=)	MUC19	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3063272	GRCh37/hg19 12q12-13.11(chr12:38258635-48235837)x3	ABCD2, ADAMTS20 +34 more	Copy number gain	not specified	GPathogenic
Select item 1809396	GRCh37/hg19 12q12(chr12:39560669-43285298)x1	ABCD2, C12orf40 +11 more	Copy number loss	not provided	GUncertain significance
Select item 1527704	GRCh37/hg19 12q12(chr12:39598809-41141181)	ABCD2, C12orf40 +5 more	Copy number gain	not specified	GUncertain significance
Select item 1527702	GRCh37/hg19 12q11-13.12(chr12:37857750-49791459)	ABCD2, ADAMTS20 +72 more	Copy number gain	not specified	GPathogenic
Select item 1048618	GRCh37/hg19 12q11-13.12(chr12:37873948-49578619)x3	PPHLN1, PRICKLE1 +66 more	Copy number gain	See cases	GLikely pathogenic
Select item 979963	GRCh37/hg19 12q12(chr12:40476826-41337435)x3	LRRK2, SLC2A13 +2 more	Copy number gain	not provided	GUncertain significance
Select item 979961	GRCh37/hg19 12q12(chr12:40678619-43945453)x4	PRICKLE1, GXYLT1 +8 more	Copy number gain	not provided	GUncertain significance
Select item 815519	GRCh37/hg19 12q12(chr12:39580744-42470754)x3	CNTN1, ABCD2 +6 more	Copy number gain	not provided	GUncertain significance
Select item 560125	Single allele	CNTN1, GXYLT1 +8 more	Duplication	not provided	GUncertain significance
Select item 524190	NC_000012.11:g.26370251_54361538inv	BICD1, HDAC7 +212 more	Inversion	not specified	GUncertain significance
Select item 443519	GRCh37/hg19 12p11.22-q12(chr12:29123400-40956186)x3	ABCD2, ALG10 +27 more	Copy number gain	See cases	GLikely pathogenic
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 441613	GRCh37/hg19 12q11-12(chr12:37889608-41414167)x3	ALG10B, CNTN1 +7 more	Copy number gain	See cases	GUncertain significance
Select item 268075	GRCh37/hg19 12p13.33-q24.33(chr12:1-133851895)x3	GALNT8, H2AJ +1007 more	Copy number gain	See cases	GPathogenic
Select item 221992	GRCh37/hg19 12p11.21-q13.12(chr12:31886971-50360461)x3	ABCD2, ADAMTS20 +92 more	Copy number gain	See cases	GPathogenic

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Items: 54