DNPH1[gene] - ClinVar

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Items: 24

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155430	GRCh38/hg38 6p25.3-12.3(chr6:156974-46789291)x3	ANKRD66, C6orf201 +2580 more	Copy number gain	See cases	GPathogenic
Select item 58427	GRCh38/hg38 6p21.2-21.1(chr6:37777369-45653843)x1	AARS2, ABCC10 +435 more	Copy number loss	See cases	GPathogenic
Select item 58428	GRCh38/hg38 6p21.1-12.3(chr6:41638061-46512949)x1	LOC123620117, LOC123620118 +324 more	Copy number loss	See cases	GPathogenic
Select item 57326	GRCh38/hg38 6p21.1(chr6:42368558-44590544)x1	LOC132089385, LOC132089386 +221 more	Copy number loss	See cases	GPathogenic
Select item 2478238	NM_006443.3(DNPH1):c.472T>C (p.Phe158Leu)	DNPH1 (F158L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2511722	NM_006443.3(DNPH1):c.467G>C (p.Arg156Pro)	DNPH1 (R156P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2407574	NM_006443.3(DNPH1):c.416G>A (p.Arg139Gln)	DNPH1 (R139Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2468920	NM_006443.3(DNPH1):c.415C>T (p.Arg139Trp)	DNPH1 (R139W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2466803	NM_006443.3(DNPH1):c.400G>A (p.Ala134Thr)	DNPH1 (A134T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2316147	NM_006443.3(DNPH1):c.365A>C (p.Gln122Pro)	DNPH1 (Q122P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3084840	NM_006443.3(DNPH1):c.346C>A (p.Leu116Met)	DNPH1 (L116M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2516792	NM_006443.3(DNPH1):c.325G>A (p.Val109Met)	DNPH1 (V109M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2485439	NM_006443.3(DNPH1):c.260C>T (p.Ala87Val)	DNPH1 (A87V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2377414	NM_006443.3(DNPH1):c.188G>A (p.Gly63Asp)	DNPH1, LOC129996500 (G63D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2403606	NM_006443.3(DNPH1):c.80G>C (p.Gly27Ala)	DNPH1 (G27A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2556530	NM_006443.3(DNPH1):c.30C>A (p.Ser10Arg)	DNPH1 (S10R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2311668	NM_006443.3(DNPH1):c.16G>A (p.Val6Met)	DNPH1 (V6M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2424354	NC_000006.11:g.(?_42162409)_(44154249_?)del	MRPS18A, PEX6 +43 more	Deletion	not provided	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 1072088	NC_000006.11:g.(?_42928506)_(43737486_?)del	KLHDC3, LRRC73 +27 more	Deletion	not provided	GPathogenic
Select item 625706	GRCh37/hg19 6p22.1-q14.1(chr6:29455465-81447367)	LRRC1, LRRC73 +427 more	Copy number gain	not provided	GPathogenic
Select item 443497	GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)	TAAR8, TAAR9 +1028 more	Copy number gain	See cases	GPathogenic
Select item 443496	GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)x3	VPS52, VTA1 +1028 more	Copy number gain	See cases	GPathogenic

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Items: 24