MDFI[gene] - ClinVar

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Items: 28

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155430	GRCh38/hg38 6p25.3-12.3(chr6:156974-46789291)x3	ILRUN-AS1, IP6K3 +2582 more	Copy number gain	See cases	GPathogenic
Select item 58427	GRCh38/hg38 6p21.2-21.1(chr6:37777369-45653843)x1	LOC129996415, LOC129996416 +435 more	Copy number loss	See cases	GPathogenic
Select item 58428	GRCh38/hg38 6p21.1-12.3(chr6:41638061-46512949)x1	LOC132089395, LOC132089396 +324 more	Copy number loss	See cases	GPathogenic
Select item 3124552	NM_005586.4(MDFI):c.109G>A (p.Val37Ile)	MDFI (V37I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2375848	NM_005586.4(MDFI):c.129C>A (p.His43Gln)	MDFI (H43Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2535910	NM_005586.4(MDFI):c.170C>T (p.Ala57Val)	MDFI (A57V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 779248	NM_005586.4(MDFI):c.207C>T (p.Ile69=)	MDFI	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3124553	NM_005586.4(MDFI):c.236A>G (p.Asp79Gly)	MDFI (D79G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2261727	NM_005586.4(MDFI):c.278C>G (p.Pro93Arg)	MDFI (P32R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2406373	NM_005586.4(MDFI):c.347C>T (p.Ala116Val)	MDFI (A116V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2531338	NM_005586.4(MDFI):c.365G>A (p.Gly122Asp)	MDFI (G122D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 789591	NM_005586.4(MDFI):c.383G>A (p.Arg128Gln)	MDFI (R128Q +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2237508	NM_005586.4(MDFI):c.391C>A (p.Gln131Lys)	MDFI (Q131K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2523526	NM_005586.4(MDFI):c.429G>C (p.Lys143Asn)	MDFI (K82N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3124554	NM_005586.4(MDFI):c.512G>A (p.Cys171Tyr)	MDFI (C110Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3124555	NM_005586.4(MDFI):c.533C>A (p.Thr178Lys)	MDFI (T117K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2250623	NM_005586.4(MDFI):c.541A>G (p.Asn181Asp)	MDFI (N120D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3293790	NM_005586.4(MDFI):c.579C>G (p.Ser193Arg)	MDFI (S132R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3293788	NM_005586.4(MDFI):c.622G>C (p.Glu208Gln)	MDFI (E147Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2486616	NM_005586.4(MDFI):c.655G>A (p.Asp219Asn)	MDFI (D219N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2224749	NM_005586.4(MDFI):c.703A>G (p.Ile235Val)	MDFI (I235V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2685202	GRCh37/hg19 6p21.31-21.1(chr6:35562152-42003452)x1	BNIP5, APOBEC2 +67 more	Copy number loss	not provided	GPathogenic
Select item 2422887	NC_000006.11:g.(?_41126341)_(43737486_?)dup	ABCC10, BICRAL +57 more	Duplication	PRPH2-related disorder	GUncertain significance
Select item 2422814	NC_000006.11:g.(?_41126341)_(43752536_?)del	ABCC10, BICRAL +58 more	Deletion	Peroxisome biogenesis disorder	GPathogenic
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 518451	t(6;17)(p21.1;q24.3)	FRS3, MDFI +2 more	Translocation	Camptomelic dysplasia	GLikely pathogenic

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Items: 28