DHX40[gene] - ClinVar

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Items: 44

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 148363	GRCh38/hg38 17q23.1-25.1(chr17:36449220-75053130)x3	AARSD1, AATF +2032 more	Copy number gain	See cases	GPathogenic
Select item 57282	GRCh38/hg38 17q21.33-24.2(chr17:36449220-68170214)x3	LOC126862582, LOC126862583 +1753 more	Copy number gain	See cases	GPathogenic
Select item 151500	GRCh38/hg38 17q22-23.1(chr17:57418806-59735464)x1	C17orf47, CCDC182 +168 more	Copy number loss	See cases	GPathogenic
Select item 146320	GRCh38/hg38 17q22-23.1(chr17:59481220-59756756)x1	CLTC, DHX40 +10 more	Copy number loss	See cases	GUncertain significance
Select item 3271917	NM_024612.5(DHX40):c.118A>G (p.Lys40Glu)	DHX40 (K40E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2250685	NM_024612.5(DHX40):c.272A>G (p.Tyr91Cys)	DHX40 (Y91C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2395138	NM_024612.5(DHX40):c.299T>C (p.Met100Thr)	DHX40 (M100T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2398698	NM_024612.5(DHX40):c.366G>A (p.Met122Ile)	DHX40 (M122I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3271914	NM_024612.5(DHX40):c.378G>C (p.Leu126Phe)	DHX40 (L126F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2274560	NM_024612.5(DHX40):c.566T>G (p.Leu189Trp)	DHX40 (L189W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3082295	NM_024612.5(DHX40):c.585G>C (p.Glu195Asp)	DHX40 (E118D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2346897	NM_024612.5(DHX40):c.616G>A (p.Val206Met)	DHX40 (V206M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 786951	NM_024612.5(DHX40):c.642A>G (p.Glu214=)	DHX40	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3082296	NM_024612.5(DHX40):c.646G>A (p.Ala216Thr)	DHX40 (A139T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2216215	NM_024612.5(DHX40):c.691C>T (p.Pro231Ser)	DHX40 (P154S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2298392	NM_024612.5(DHX40):c.743G>A (p.Arg248Gln)	DHX40 (R171Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2244810	NM_024612.5(DHX40):c.923C>T (p.Thr308Ile)	DHX40 (T231I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3271915	NM_024612.5(DHX40):c.1027A>G (p.Ile343Val)	DHX40 (I343V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2310623	NM_024612.5(DHX40):c.1481A>G (p.His494Arg)	DHX40 (H417R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3271916	NM_024612.5(DHX40):c.1511C>T (p.Ser504Phe)	DHX40 (S504F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2278345	NM_024612.5(DHX40):c.1664C>G (p.Thr555Ser)	DHX40 (T478S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2266179	NM_024612.5(DHX40):c.1679T>A (p.Phe560Tyr)	DHX40 (F483Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3082291	NM_024612.5(DHX40):c.1700G>A (p.Gly567Glu)	DHX40 (G490E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2284813	NM_024612.5(DHX40):c.1762C>T (p.Arg588Cys)	DHX40 (R588C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3082292	NM_024612.5(DHX40):c.1880A>G (p.Tyr627Cys)	DHX40 (Y550C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3082293	NM_024612.5(DHX40):c.1987A>G (p.Thr663Ala)	DHX40 (T663A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2355303	NM_024612.5(DHX40):c.2137C>T (p.Arg713Cys)	DHX40 (R636C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2409168	NM_024612.5(DHX40):c.2224A>G (p.Lys742Glu)	DHX40 (K742E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2604102	NM_024612.5(DHX40):c.2273C>G (p.Ala758Gly)	DHX40 (A681G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2426129	NC_000017.10:g.(?_56798087)_(57771213_?)dup	CLTC, DHX40 +8 more	Duplication	not provided	GUncertain significance
Select item 1526581	GRCh37/hg19 17q23.1(chr17:57665341-57873701)	CLTC, DHX40 +2 more	Copy number loss	not specified	GUncertain significance
Select item 1412084	NC_000017.10:g.(?_54671585)_(59938900_?)dup	AKAP1, APPBP2 +54 more	Duplication	Meckel-Gruber syndrome +1 more	GUncertain significance
Select item 1340823	GRCh37/hg19 17q23.1-23.2(chr17:57605300-59389547)x1	APPBP2, BCAS3 +13 more	Copy number loss	not provided	GPathogenic
Select item 983171	GRCh37/hg19 17q23.1(chr17:57664487-57682800)x1	DHX40	Copy number loss	See cases	GUncertain significance
Select item 815942	GRCh37/hg19 17q23.1(chr17:57616400-57986918)x1	TUBD1, VMP1 +5 more	Copy number loss	not provided	GLikely pathogenic
Select item 625756	GRCh37/hg19 17q22-24.2(chr17:57357088-66306668)	ACE, AMZ2 +77 more	Copy number gain	not provided	GPathogenic
Select item 443558	GRCh37/hg19 17q22-23.2(chr17:56623275-60285107)x1	APPBP2, BCAS3 +29 more	Copy number loss	See cases	GPathogenic
Select item 442518	GRCh37/hg19 17q22-23.1(chr17:57159678-57665342)x3	DHX40, GDPD1 +5 more	Copy number gain	See cases	GUncertain significance
Select item 441816	GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)x3	ALOX12, ALOX12B +1143 more	Copy number gain	See cases	GPathogenic
Select item 441815	GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)	SPEM2, TBCD +1143 more	Copy number gain	See cases	GPathogenic
Select item 441659	GRCh37/hg19 17q22-23.1(chr17:57070141-57752711)x3	CLTC, DHX40 +6 more	Copy number gain	See cases	GUncertain significance
Select item 395646	GRCh37/hg19 17q21.31-25.3(chr17:42580684-81085615)x3	AANAT, AATK +458 more	Copy number gain	See cases	GPathogenic
Select item 394158	GRCh37/hg19 17q21.33-23.2(chr17:49076980-58740945)x3	AKAP1, ANKFN1 +65 more	Copy number gain	See cases	GPathogenic
Select item 253549	GRCh37/hg19 17q22-23.3(chr17:56321134-62080001)x3	TANC2, DDX42 +66 more	Copy number gain	See cases	GPathogenic

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Items: 44