27442[HGNC] - ClinVar

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Items: 43

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 152827	GRCh38/hg38 11q13.1(chr11:65327786-65626431)x3	DPF2, EHBP1L1 +80 more	Copy number gain	See cases	GUncertain significance
Select item 2360555	NM_182556.4(SLC25A45):c.814G>A (p.Val272Ile)	FRMD8, SLC25A45 (V272I +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2641953	NM_182556.4(SLC25A45):c.786C>A (p.Val262=)	FRMD8, SLC25A45	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2468918	NM_182556.4(SLC25A45):c.760G>A (p.Gly254Arg)	FRMD8, SLC25A45 (G150R +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3163777	NM_182556.4(SLC25A45):c.755A>C (p.Gln252Pro)	FRMD8, SLC25A45 (Q252P +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3163776	NM_182556.4(SLC25A45):c.736A>C (p.Met246Leu)	FRMD8, SLC25A45 (M204L +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2305226	NM_182556.4(SLC25A45):c.736A>G (p.Met246Val)	FRMD8, SLC25A45 (M142V +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2555290	NM_182556.4(SLC25A45):c.720G>C (p.Gln240His)	FRMD8, SLC25A45 (Q198H +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2512953	NM_182556.4(SLC25A45):c.706C>A (p.Arg236Ser)	FRMD8, SLC25A45 (R174S +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2607050	NM_182556.4(SLC25A45):c.682C>T (p.Arg228Trp)	FRMD8, SLC25A45 (R166W +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2341816	NM_182556.4(SLC25A45):c.626G>T (p.Gly209Val)	FRMD8, SLC25A45 (G105V +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2481733	NM_182556.4(SLC25A45):c.562C>T (p.Leu188Phe)	FRMD8, SLC25A45 (L146F +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2359502	NM_182556.4(SLC25A45):c.512C>T (p.Thr171Met)	FRMD8, SLC25A45 (T147M +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2616538	NM_182556.4(SLC25A45):c.482G>A (p.Arg161Gln)	FRMD8, SLC25A45 (R137Q +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2394784	NM_182556.4(SLC25A45):c.479C>T (p.Pro160Leu)	FRMD8, SLC25A45 (P118L +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2365530	NM_182556.4(SLC25A45):c.446A>G (p.His149Arg)	FRMD8, SLC25A45 (H107R +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2385511	NM_182556.4(SLC25A45):c.418C>T (p.Pro140Ser)	FRMD8, SLC25A45 (P36S +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2341547	NM_182556.4(SLC25A45):c.403G>A (p.Ala135Thr)	FRMD8, SLC25A45 (A135T +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2618586	NM_182556.4(SLC25A45):c.341C>A (p.Ala114Asp)	FRMD8, SLC25A45 (A10D +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2545309	NM_182556.4(SLC25A45):c.287C>T (p.Pro96Leu)	FRMD8, SLC25A45 (P54L +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2318639	NM_182556.4(SLC25A45):c.278G>A (p.Arg93Gln)	FRMD8, SLC25A45 (R93Q +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2215335	NM_182556.4(SLC25A45):c.277C>T (p.Arg93Trp)	FRMD8, SLC25A45 (R51W +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2402650	NM_182556.4(SLC25A45):c.275G>A (p.Arg92Gln)	FRMD8, SLC25A45 (R92Q +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2608138	NM_182556.4(SLC25A45):c.170A>G (p.Lys57Arg)	FRMD8, SLC25A45 (K57R +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3163774	NM_182556.4(SLC25A45):c.145C>T (p.His49Tyr)	FRMD8, SLC25A45 (H7Y +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2493469	NM_182556.4(SLC25A45):c.143G>A (p.Arg48His)	FRMD8, SLC25A45 (R48H +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2454568	NM_182556.4(SLC25A45):c.110G>A (p.Arg37Gln)	FRMD8, SLC25A45 (R37Q)	Single nucleotide variant (5 prime UTR variant +3 more)	not specified	GUncertain significance
Select item 2313128	NM_182556.4(SLC25A45):c.82G>T (p.Val28Leu)	FRMD8, SLC25A45 (V28L)	Single nucleotide variant (5 prime UTR variant +3 more)	not specified	GUncertain significance
Select item 2512449	NM_182556.4(SLC25A45):c.56T>C (p.Leu19Pro)	FRMD8, SLC25A45 (L19P)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2226315	NM_182556.4(SLC25A45):c.17T>C (p.Phe6Ser)	FRMD8, LOC112081410 +1 more (F6S)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 3063215	GRCh37/hg19 11q12.1-13.3(chr11:56895955-69295402)x3	ACTN3, ACY3 +343 more	Copy number gain	not specified	GLikely pathogenic
Select item 2684648	GRCh37/hg19 11q13.1(chr11:64573225-65193732)x3	ARL2, ATG2A +29 more	Copy number gain	not provided	GUncertain significance
Select item 2684646	GRCh37/hg19 11q12.2-13.5(chr11:59923608-76272324)x3	ACTN3, ACY3 +362 more	Copy number gain	not provided	GPathogenic
Select item 2424770	NC_000011.9:g.(?_64973914)_(70052579_?)dup	ACTN3, ACY3 +124 more	Duplication	Aicardi-Goutieres syndrome 3 +1 more	GUncertain significance
Select item 1704646	GRCh37/hg19 11p13-q25(chr11:32799481-134938470)x3	GRIA4, GRIK4 +956 more	Copy number gain	MISSED ABORTION	GPathogenic
Select item 1527644	GRCh37/hg19 11q13.1-13.2(chr11:64935724-66405514)	ACTN3, AP5B1 +63 more	Copy number loss	not specified	GUncertain significance
Select item 1449359	NC_000011.9:g.(?_64522783)_(66283694_?)del	SF3B2, SIPA1 +81 more	Deletion	Glycogen storage disease, type V +1 more	GPathogenic
Select item 997825	Single allele	ACER3, ACP2 +904 more	Deletion	Intellectual disability	GPathogenic
Select item 634998	dup(11)(q13.1q13.1)	ARL2, ATG2A +74 more	Duplication	Ependymoma	GLikely pathogenic
Select item 625593	GRCh37/hg19 11q13.1-13.2(chr11:65138976-67574402)	ACTN3, ACY3 +94 more	Copy number gain	not provided	GPathogenic
Select item 443398	GRCh37/hg19 11q13.1-13.2(chr11:64501919-67129258)x3	ACTN3, ANKRD13D +104 more	Copy number gain	See cases	GLikely pathogenic
Select item 441904	GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)	ACP2, CREBZF +1289 more	Copy number gain	See cases	GPathogenic
Select item 441903	GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)x3	GALNT18, MPZL3 +1289 more	Copy number gain	See cases	GPathogenic

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Items: 43