"GeneDx"[submitter] AND "GATAD1"[gene] - ClinVar

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Items: 70

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1262925	NC_000007.14:g.92447335C>A	GATAD1	Single nucleotide variant	not provided	GBenign
Select item 1226007	NC_000007.14:g.92447466del	GATAD1, LOC129998793	Deletion (genic upstream transcript variant)	not provided	GBenign
Select item 1316690	NC_000007.14:g.92447466C>G	GATAD1, LOC129998793	Single nucleotide variant (genic upstream transcript variant)	not provided	GLikely benign
Select item 1316287	NM_021167.5(GATAD1):c.-217C>G	GATAD1, LOC129998793	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 510224	NM_021167.5(GATAD1):c.-40C>T	GATAD1, LOC129998793	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GLikely benign
Select item 668316	NM_021167.5(GATAD1):c.-9C>T	GATAD1, LOC129998793	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 392322	NM_021167.5(GATAD1):c.-3A>G	GATAD1, LOC129998793	Single nucleotide variant (5 prime UTR variant +1 more)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 137447	NM_021167.5(GATAD1):c.48G>A (p.Ser16=)	GATAD1, LOC129998793	Single nucleotide variant (synonymous variant +1 more)	not specified +2 more	GBenign/Likely benign
Select item 392370	NM_021167.5(GATAD1):c.71C>T (p.Ala24Val)	GATAD1, LOC129998793 (A24V)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 228696	NM_021167.5(GATAD1):c.96T>G (p.His32Gln)	LOC129998793, GATAD1 (H32Q)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 515249	NM_021167.5(GATAD1):c.156T>A (p.Thr52=)	GATAD1, LOC129998793	Single nucleotide variant (synonymous variant +1 more)	not specified +2 more	GLikely benign
Select item 45825	NM_021167.5(GATAD1):c.160G>A (p.Gly54Ser)	GATAD1, LOC129998793 (G54S)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GBenign
Select item 163496	NM_021167.5(GATAD1):c.176G>C (p.Gly59Ala)	GATAD1, LOC129998793 (G59A)	Single nucleotide variant (missense variant +1 more)	Dilated cardiomyopathy 2B +3 more	GLikely benign
Select item 373266	NM_021167.5(GATAD1):c.233del (p.Gly78fs)	GATAD1, LOC129998793 (G78fs)	Deletion (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 385347	NM_021167.5(GATAD1):c.249+11C>G	GATAD1, LOC129998793	Single nucleotide variant (intron variant)	not specified +1 more	GLikely benign
Select item 227372	NM_021167.5(GATAD1):c.249+13G>A	GATAD1, LOC129998793	Single nucleotide variant (intron variant)	Dilated cardiomyopathy 2B +2 more	GLikely benign
Select item 137445	NM_021167.5(GATAD1):c.249+15C>T	GATAD1, LOC129998793	Single nucleotide variant (intron variant)	Dilated cardiomyopathy 2B +2 more	GBenign/Likely benign
Select item 137446	NM_021167.5(GATAD1):c.249+20C>G	GATAD1, LOC129998793	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
Select item 671241	NM_021167.5(GATAD1):c.249+95C>G	GATAD1, LOC129998793	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1265311	NM_021167.5(GATAD1):c.249+182G>A	GATAD1, LOC129998793	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1182112	NM_021167.5(GATAD1):c.249+199A>G	GATAD1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1316759	NM_021167.5(GATAD1):c.249+311G>T	GATAD1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1317565	NM_021167.5(GATAD1):c.250-316A>G	GATAD1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 45826	NM_021167.5(GATAD1):c.276T>G (p.Ser92=)	GATAD1	Single nucleotide variant (synonymous variant +1 more)	Dilated cardiomyopathy 2B +2 more	GBenign/Likely benign
Select item 1266953	NM_021167.5(GATAD1):c.375+202T>G	GATAD1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 675497	NM_021167.5(GATAD1):c.376-56A>G	GATAD1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1317770	NM_021167.5(GATAD1):c.435+251G>A	GATAD1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 678495	NM_021167.5(GATAD1):c.436-234C>G	GATAD1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 45828	NM_021167.5(GATAD1):c.558G>A (p.Thr186=)	GATAD1	Single nucleotide variant (synonymous variant +1 more)	Dilated cardiomyopathy 2B +3 more	GBenign/Likely benign
Select item 373242	NM_021167.5(GATAD1):c.575T>C (p.Leu192Pro)	GATAD1 (L192P)	Single nucleotide variant (missense variant +1 more)	Dilated cardiomyopathy 2B +1 more	GUncertain significance
Select item 511020	NM_021167.5(GATAD1):c.585C>G (p.Pro195=)	GATAD1	Single nucleotide variant (synonymous variant +1 more)	not specified +1 more	GLikely benign
Select item 201784	NM_021167.5(GATAD1):c.613A>G (p.Ile205Val)	GATAD1 (I205V)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 1317685	NM_021167.5(GATAD1):c.619+32dup	GATAD1	Duplication (intron variant)	not provided	GLikely benign
Select item 518980	NM_021167.5(GATAD1):c.681T>A (p.Ser227=)	GATAD1	Single nucleotide variant (synonymous variant +1 more)	not provided +2 more	GLikely benign
Select item 393058	NM_021167.5(GATAD1):c.682G>C (p.Glu228Gln)	GATAD1 (E228Q)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 45829	NM_021167.5(GATAD1):c.697C>T (p.Arg233Trp)	GATAD1 (R233W)	Single nucleotide variant (missense variant +1 more)	not specified +2 more	GBenign
Select item 137448	NM_021167.5(GATAD1):c.762G>A (p.Gly254=)	GATAD1	Single nucleotide variant (synonymous variant +1 more)	not specified +3 more	GBenign/Likely benign
Select item 1188007	NM_000466.3(PEX1):c.3768-243_3768-242del	GATAD1, PEX1	Deletion (intron variant)	not provided	GLikely benign
Select item 1247911	NM_000466.3(PEX1):c.3767+113C>G	GATAD1, PEX1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1675233	NM_000466.3(PEX1):c.3767+49A>G	GATAD1, PEX1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 188981	NM_000466.3(PEX1):c.3693_3696del (p.Gln1231fs)	GATAD1, PEX1 (Q1174fs +2 more)	Microsatellite (frameshift variant)	Peroxisome biogenesis disorder +5 more	GPathogenic/Likely pathogenic
Select item 1213583	NM_000466.3(PEX1):c.3637-53dup	GATAD1, PEX1	Duplication (intron variant)	not provided	GLikely benign
Select item 371698	NM_000466.3(PEX1):c.3574C>T (p.Gln1192Ter)	GATAD1, PEX1 (Q1192* +2 more)	Single nucleotide variant (nonsense)	PEX1-related disorder +3 more	GPathogenic/Likely pathogenic
Select item 360913	NM_000466.3(PEX1):c.3566C>T (p.Thr1189Ile)	GATAD1, PEX1 (T1189I +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GUncertain significance
Select item 256220	NM_000466.3(PEX1):c.3439-14_3439-13del	GATAD1, PEX1	Deletion (intron variant)	not specified +3 more	GBenign/Likely benign
Select item 1242326	NM_000466.3(PEX1):c.3439-59=	GATAD1, PEX1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 596889	NM_000466.3(PEX1):c.3419_3424del (p.Asn1140_Gly1141del)	GATAD1, PEX1	Deletion (inframe_deletion)	not specified +2 more	GUncertain significance
Select item 817583	NM_000466.3(PEX1):c.3329_3332del (p.Val1109_Ser1110insTer)	GATAD1, PEX1	Deletion (nonsense)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 287046	NM_000466.3(PEX1):c.3303_3304dup (p.Cys1102fs)	GATAD1, PEX1 (C1045fs +2 more)	Duplication (frameshift variant)	Peroxisome biogenesis disorder 1A (Zellweger) +4 more	GPathogenic/Likely pathogenic
Select item 371765	NM_000466.3(PEX1):c.3208-1G>A	PEX1, GATAD1	Single nucleotide variant (splice acceptor variant)	Zellweger spectrum disorders +3 more	GPathogenic/Likely pathogenic
Select item 1229478	NM_000466.3(PEX1):c.3208-43A>T	GATAD1, PEX1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1262779	NM_000466.3(PEX1):c.3208-178del	GATAD1, PEX1	Deletion (intron variant)	not provided	GBenign
Select item 1197686	NM_000466.3(PEX1):c.3207+1G>A	GATAD1, PEX1	Single nucleotide variant (splice donor variant)	not provided	GPathogenic
Select item 1035566	NM_000466.3(PEX1):c.3151C>A (p.Leu1051Ile)	GATAD1, PEX1 (L994I +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 553776	NM_000466.3(PEX1):c.3077T>C (p.Leu1026Pro)	PEX1, GATAD1 (L1026P +2 more)	Single nucleotide variant (missense variant)	Zellweger spectrum disorders +4 more	GConflicting classifications of pathogenicity
Select item 1050242	NM_000466.3(PEX1):c.3074C>T (p.Pro1025Leu)	GATAD1, PEX1 (P1025L +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 289972	NM_000466.3(PEX1):c.3044A>C (p.Glu1015Ala)	GATAD1, PEX1 (E1015A +2 more)	Single nucleotide variant (missense variant)	not provided +5 more	GConflicting classifications of pathogenicity
Select item 288256	NM_000466.3(PEX1):c.3031G>A (p.Val1011Met)	GATAD1, PEX1 (V1011M +2 more)	Single nucleotide variant (missense variant)	Zellweger spectrum disorders +3 more	GConflicting classifications of pathogenicity
Select item 1236653	NM_000466.3(PEX1):c.3031-148T>C	PEX1, GATAD1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 224325	NM_000466.3(PEX1):c.2966T>C (p.Ile989Thr)	GATAD1, PEX1 (I989T +2 more)	Single nucleotide variant (missense variant)	Heimler syndrome 1 +6 more	GPathogenic/Likely pathogenic
Select item 189002	NM_000466.3(PEX1):c.2926+2T>C	GATAD1, PEX1	Single nucleotide variant (splice donor variant)	Peroxisome biogenesis disorder +5 more	GPathogenic/Likely pathogenic
Select item 188729	NM_000466.3(PEX1):c.2926+1G>A	GATAD1, PEX1	Single nucleotide variant (splice donor variant)	Peroxisome biogenesis disorder 1A (Zellweger) +6 more	GPathogenic/Likely pathogenic
Select item 371696	NM_000466.3(PEX1):c.2922del (p.Leu974fs)	PEX1, GATAD1 (L917fs +2 more)	Deletion (frameshift variant)	Peroxisome biogenesis disorder +3 more	GPathogenic/Likely pathogenic
Select item 189043	NM_000466.3(PEX1):c.2916del (p.Gly973fs)	GATAD1, PEX1 (G973fs +2 more)	Deletion (frameshift variant)	Peroxisome biogenesis disorder +6 more	GPathogenic/Likely pathogenic
Select item 93109	NM_000466.3(PEX1):c.2901G>A (p.Gln967=)	GATAD1, PEX1	Single nucleotide variant (synonymous variant)	Zellweger spectrum disorders +3 more	GBenign/Likely benign
Select item 593681	NM_000466.3(PEX1):c.2876G>A (p.Arg959Gln)	GATAD1, PEX1 (R959Q +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 371716	NM_000466.3(PEX1):c.2875C>T (p.Arg959Ter)	GATAD1, PEX1 (R959* +2 more)	Single nucleotide variant (nonsense)	Peroxisome biogenesis disorder 1A (Zellweger) +4 more	GPathogenic/Likely pathogenic
Select item 556176	NM_000466.3(PEX1):c.2846G>A (p.Arg949Gln)	GATAD1, PEX1 (R949Q +2 more)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 282809	NM_000466.3(PEX1):c.2842C>T (p.Arg948Trp)	GATAD1, PEX1 (R948W +2 more)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 559082	NM_000466.3(PEX1):c.2784-23G>A	GATAD1, PEX1	Single nucleotide variant (intron variant)	not provided	GBenign

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Items: 70