ClinVar for Gene (Select 11270) - ClinVar

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Links from Gene

Items: 24

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3301069	NM_001384369.1(NRM):c.362A>G (p.Lys121Arg)	NRM (K121R +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GLikely benign
Select item 3301068	NM_001384369.1(NRM):c.475T>C (p.Phe159Leu)	NRM (F165L +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3202183	NM_001384369.1(NRM):c.7C>T (p.Pro3Ser)	NRM (P3S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3202182	NM_001384369.1(NRM):c.79C>T (p.Arg27Cys)	NRM (R27C)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3202181	NM_001384369.1(NRM):c.470T>C (p.Leu157Pro)	NRM (L157P +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3202180	NM_001384369.1(NRM):c.221T>C (p.Val74Ala)	NRM (V74A)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3202179	NM_001384369.1(NRM):c.106G>A (p.Gly36Arg)	NRM (G36R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3062937	GRCh37/hg19 6p21.33(chr6:30629521-30962674)x3	DDR1, DHX16 +11 more	Copy number gain	not specified	GUncertain significance
Select item 2604246	NM_001384369.1(NRM):c.359C>T (p.Pro120Leu)	NRM (P126L +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2525368	NM_001384369.1(NRM):c.386G>A (p.Arg129Gln)	NRM (R129Q +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GLikely benign
Select item 2521995	NM_001384369.1(NRM):c.649C>T (p.Arg217Cys)	NRM (R223C +3 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2519793	NM_001384369.1(NRM):c.667C>G (p.Leu223Val)	NRM (L164V +3 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2518557	NM_001384369.1(NRM):c.114C>G (p.Ile38Met)	NRM (I38M)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2483651	NM_001384369.1(NRM):c.88T>A (p.Ser30Thr)	NRM (S30T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2475689	NM_001384369.1(NRM):c.422G>T (p.Cys141Phe)	NRM (C147F +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2343267	NM_001384369.1(NRM):c.727C>T (p.Arg243Trp)	NRM (R243W +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2338240	NM_001384369.1(NRM):c.97C>T (p.Pro33Ser)	NRM (P33S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2271138	NM_001384369.1(NRM):c.626T>G (p.Val209Gly)	NRM (V209G +2 more)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 2218614	NM_001384369.1(NRM):c.70G>C (p.Glu24Gln)	NRM (E24Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 974733	NC_000006.11:g.28005012_31683185del	ABCF1, ABHD16A +106 more	Deletion	Megacolon	GLikely pathogenic
Select item 625706	GRCh37/hg19 6p22.1-q14.1(chr6:29455465-81447367)	ERVH-3, ETV7 +427 more	Copy number gain	not provided	GPathogenic
Select item 443497	GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)	AARS2, ABCC10 +1028 more	Copy number gain	See cases	GPathogenic
Select item 443496	GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)x3	RING1, RIOK1 +1028 more	Copy number gain	See cases	GPathogenic
Select item 155430	GRCh38/hg38 6p25.3-12.3(chr6:156974-46789291)x3	ILRUN-AS1, IP6K3 +2582 more	Copy number gain	See cases	GPathogenic

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Links from Gene

Items: 24