HHATL[gene] - ClinVar

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Items: 37

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3105689	NM_020707.4(HHATL):c.1477G>A (p.Glu493Lys)	HHATL (E493K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2361562	NM_020707.4(HHATL):c.1457G>A (p.Arg486His)	HHATL (R486H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2213417	NM_020707.4(HHATL):c.1439T>C (p.Val480Ala)	HHATL (V480A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3105688	NM_020707.4(HHATL):c.1415T>C (p.Ile472Thr)	HHATL (I472T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2562758	NM_020707.4(HHATL):c.1406C>T (p.Thr469Met)	HHATL (T469M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2390887	NM_020707.4(HHATL):c.1373G>A (p.Arg458Gln)	HHATL (R458Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2344743	NM_020707.4(HHATL):c.1150G>T (p.Asp384Tyr)	HHATL (D384Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2204941	NM_020707.4(HHATL):c.1067G>T (p.Gly356Val)	HHATL (G356V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2371069	NM_020707.4(HHATL):c.1022G>A (p.Arg341His)	HHATL (R341H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3105695	NM_020707.4(HHATL):c.988G>A (p.Ala330Thr)	HHATL (A330T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2273438	NM_020707.4(HHATL):c.945C>G (p.Cys315Trp)	HHATL (C315W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2510543	NM_020707.4(HHATL):c.913G>A (p.Val305Ile)	HHATL (V305I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3105694	NM_020707.4(HHATL):c.868G>T (p.Gly290Cys)	HHATL (G290C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3105693	NM_020707.4(HHATL):c.845G>A (p.Arg282His)	HHATL (R282H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3105692	NM_020707.4(HHATL):c.709C>A (p.Pro237Thr)	HHATL (P237T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2539663	NM_020707.4(HHATL):c.685C>T (p.His229Tyr)	HHATL (H229Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3105691	NM_020707.4(HHATL):c.651C>A (p.Phe217Leu)	HHATL (F217L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2287113	NM_020707.4(HHATL):c.647T>C (p.Phe216Ser)	HHATL (F216S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3105690	NM_020707.4(HHATL):c.556C>T (p.Arg186Cys)	HHATL (R186C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2653713	NM_020707.4(HHATL):c.542G>T (p.Ser181Ile)	HHATL (S181I)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 2311687	NM_020707.4(HHATL):c.538A>G (p.Ser180Gly)	HHATL (S180G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2312534	NM_020707.4(HHATL):c.528T>G (p.Phe176Leu)	HHATL (F176L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2323619	NM_020707.4(HHATL):c.499G>C (p.Gly167Arg)	HHATL (G167R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2388636	NM_020707.4(HHATL):c.400C>G (p.Leu134Val)	HHATL (L134V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2244876	NM_020707.4(HHATL):c.316G>C (p.Gly106Arg)	HHATL (G106R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2345732	NM_020707.4(HHATL):c.223G>A (p.Val75Ile)	HHATL (V75I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2356447	NM_020707.4(HHATL):c.218G>A (p.Arg73His)	HHATL (R73H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2339815	NM_020707.4(HHATL):c.152G>T (p.Trp51Leu)	HHATL (W51L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2271647	NM_020707.4(HHATL):c.131G>A (p.Arg44Gln)	HHATL (R44Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2213744	NM_020707.4(HHATL):c.83G>A (p.Arg28Gln)	HHATL (R28Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2410432	NM_020707.4(HHATL):c.82C>T (p.Arg28Trp)	HHATL (R28W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1441558	NC_000003.11:g.(?_40924962)_(43760024_?)dup	POMGNT2, SEC22C +22 more	Duplication	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8	GUncertain significance
Select item 562760	GRCh37/hg19 3p24.3-21.31(chr3:16923595-45249923)x2,3	ABHD5, ACAA1 +135 more	Copy number gain	not provided	GPathogenic
Select item 442401	GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)x3	FBXL2, FBXO40 +1054 more	Copy number gain	See cases	GPathogenic
Select item 442400	GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)	A4GNT, AADAC +1054 more	Copy number gain	See cases	GPathogenic
Select item 253640	GRCh37/hg19 3p22.1-21.31(chr3:41104508-44636698)x1	HHATL, ZKSCAN7 +29 more	Copy number loss	See cases	GPathogenic
Select item 253356	GRCh37/hg19 3p22.2-21.31(chr3:37028313-49929220)x3	ABHD5, ACAA1 +177 more	Copy number gain	See cases	GLikely pathogenic

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Items: 37