ClinVar for Gene (Select 10817) - ClinVar

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Links from Gene

Items: 49

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3279957	NM_006653.5(FRS3):c.1428C>G (p.Asp476Glu)	FRS3 (D476E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3279956	NM_006653.5(FRS3):c.1042G>A (p.Asp348Asn)	FRS3 (D348N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3097055	NM_006653.5(FRS3):c.973C>G (p.Leu325Val)	FRS3 (L325V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3097054	NM_006653.5(FRS3):c.809A>G (p.Asn270Ser)	FRS3 (N270S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3097053	NM_006653.5(FRS3):c.808A>T (p.Asn270Tyr)	FRS3 (N270Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3097052	NM_006653.5(FRS3):c.745G>C (p.Ala249Pro)	FRS3 (A249P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3097051	NM_006653.5(FRS3):c.716A>C (p.Gln239Pro)	FRS3 (Q239P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3097050	NM_006653.5(FRS3):c.688G>A (p.Asp230Asn)	FRS3 (D230N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3097049	NM_006653.5(FRS3):c.430G>A (p.Val144Ile)	FRS3 (V144I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3097048	NM_006653.5(FRS3):c.361C>T (p.Arg121Cys)	FRS3 (R121C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3097047	NM_006653.5(FRS3):c.127A>G (p.Ser43Gly)	FRS3 (S43G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3097046	NM_006653.5(FRS3):c.1177C>T (p.Arg393Cys)	FRS3 (R393C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3097045	NM_006653.5(FRS3):c.116A>C (p.Glu39Ala)	FRS3 (E39A)	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 2603097	NM_006653.5(FRS3):c.1220C>T (p.Pro407Leu)	FRS3 (P407L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2601239	NM_006653.5(FRS3):c.887G>A (p.Arg296Gln)	FRS3 (R296Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2600032	NM_006653.5(FRS3):c.908G>T (p.Ser303Ile)	FRS3 (S303I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2590657	NM_006653.5(FRS3):c.991G>T (p.Val331Leu)	FRS3 (V331L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2570268	NM_006653.5(FRS3):c.536C>T (p.Thr179Ile)	FRS3 (T179I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2545010	NM_006653.5(FRS3):c.1259T>C (p.Val420Ala)	FRS3 (V420A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2540471	NM_006653.5(FRS3):c.1192A>G (p.Arg398Gly)	FRS3 (R398G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2523653	NM_006653.5(FRS3):c.813T>A (p.Asn271Lys)	FRS3 (N271K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2523633	NM_006653.5(FRS3):c.815A>G (p.Asn272Ser)	FRS3 (N272S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2473436	NM_006653.5(FRS3):c.488G>A (p.Arg163Gln)	FRS3 (R163Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2466592	NM_006653.5(FRS3):c.1322C>T (p.Ala441Val)	FRS3 (A441V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2456112	NM_006653.5(FRS3):c.122C>T (p.Thr41Met)	FRS3 (T41M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 2395191	NM_006653.5(FRS3):c.1046C>T (p.Ser349Leu)	FRS3 (S349L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2389482	NM_006653.5(FRS3):c.670C>T (p.Arg224Trp)	FRS3 (R224W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2388108	NM_006653.5(FRS3):c.685C>T (p.Arg229Trp)	FRS3 (R229W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2376446	NM_006653.5(FRS3):c.587C>T (p.Pro196Leu)	FRS3 (P196L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2360003	NM_006653.5(FRS3):c.37G>A (p.Val13Ile)	FRS3 (V13I)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2332545	NM_006653.5(FRS3):c.878G>A (p.Gly293Glu)	FRS3 (G293E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2322681	NM_006653.5(FRS3):c.242A>G (p.Gln81Arg)	FRS3 (Q81R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2298713	NM_006653.5(FRS3):c.1033G>A (p.Asp345Asn)	FRS3 (D345N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2277910	NM_006653.5(FRS3):c.1465G>A (p.Asp489Asn)	FRS3 (D489N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2259002	NM_006653.5(FRS3):c.332A>G (p.Asn111Ser)	FRS3 (N111S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2252114	NM_006653.5(FRS3):c.178C>A (p.Leu60Ile)	FRS3 (L60I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2211211	NM_006653.5(FRS3):c.1181G>A (p.Arg394His)	FRS3 (R394H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 781869	NM_006653.5(FRS3):c.514C>T (p.Pro172Ser)	FRS3 (P172S)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 770174	NM_006653.5(FRS3):c.476C>T (p.Ser159Leu)	FRS3 (S159L)	Single nucleotide variant (missense variant)	not provided	GBenign
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 518451	t(6;17)(p21.1;q24.3)	FRS3, MDFI +2 more	Translocation	Camptomelic dysplasia	GLikely pathogenic
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
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 58427	GRCh38/hg38 6p21.2-21.1(chr6:37777369-45653843)x1	LOC129996415, LOC129996416 +435 more	Copy number loss	See cases	GPathogenic

ClinVar

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Links from Gene

Items: 49