ClinVar for Gene (Select 10445) - ClinVar

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Links from Gene

Items: 25

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3293744	NM_006337.5(MCRS1):c.1339G>A (p.Asp447Asn)	MCRS1 (D460N +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3293743	NM_006337.5(MCRS1):c.353G>A (p.Arg118His)	MCRS1 (R118H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3293742	NM_006337.5(MCRS1):c.13T>C (p.Ser5Pro)	MCRS1 (S18P +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3293741	NM_006337.5(MCRS1):c.1028A>G (p.Asn343Ser)	MCRS1 (N343S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3293740	NM_006337.5(MCRS1):c.558G>A (p.Lys186=)	MCRS1	Single nucleotide variant (synonymous variant +1 more)	not specified	GLikely benign
Select item 3293739	NM_006337.5(MCRS1):c.478G>A (p.Val160Met)	MCRS1 (V173M +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3124478	NM_006337.5(MCRS1):c.1354A>G (p.Ile452Val)	MCRS1 (I261V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2554765	NM_006337.5(MCRS1):c.1217A>G (p.Asn406Ser)	MCRS1 (N215S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2519330	NM_006337.5(MCRS1):c.779A>T (p.Gln260Leu)	MCRS1 (Q260L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2472132	NM_006337.5(MCRS1):c.627T>G (p.Phe209Leu)	MCRS1 (F18L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2461881	NM_006337.5(MCRS1):c.98G>A (p.Arg33Gln)	MCRS1 (R33Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2399748	NM_006337.5(MCRS1):c.47C>T (p.Ser16Leu)	MCRS1 (S29L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2397848	NM_006337.5(MCRS1):c.11-217G>A	MCRS1 (R3H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2352989	NM_006337.5(MCRS1):c.928C>T (p.Arg310Trp)	MCRS1 (R310W +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2284001	NM_006337.5(MCRS1):c.749C>T (p.Ala250Val)	MCRS1 (A250V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2265302	NM_006337.5(MCRS1):c.269C>T (p.Ser90Phe)	MCRS1 (S90F +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2260245	NM_006337.5(MCRS1):c.529G>A (p.Ala177Thr)	MCRS1 (A177T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2214286	NM_006337.5(MCRS1):c.769C>T (p.Leu257Phe)	MCRS1 (L257F +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 979964	GRCh37/hg19 12q13.11-13.12(chr12:49024019-50299974)x3	ADCY6, ARF3 +32 more	Copy number gain	not provided	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
Select item 221992	GRCh37/hg19 12p11.21-q13.12(chr12:31886971-50360461)x3	ABCD2, ADAMTS20 +92 more	Copy number gain	See cases	GPathogenic
Select item 150740	GRCh38/hg38 12p13.33-q24.33(chr12:121271-133196807)x3	ACAD10, ACADS +4836 more	Copy number gain	See cases	GPathogenic

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Links from Gene

Items: 25