"Labcorp Genetics (formerly Invitae), Labcorp"[submitter] AND "KDF1"[g - ClinVar

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Items: 37

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2040700	NM_152365.3(KDF1):c.1167G>A (p.Ser389=)	KDF1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2859389	NM_152365.3(KDF1):c.1165T>C (p.Ser389Pro)	KDF1 (S389P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2638549	NM_152365.3(KDF1):c.1153G>A (p.Asp385Asn)	KDF1 (D385N)	Single nucleotide variant (missense variant)	not provided	GBenign/Likely benign
Select item 2059674	NM_152365.3(KDF1):c.1138T>C (p.Ser380Pro)	KDF1 (S380P)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2965926	NM_152365.3(KDF1):c.1114+14C>T	KDF1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1990289	NM_152365.3(KDF1):c.1114+13C>A	KDF1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 754917	NM_152365.3(KDF1):c.1056C>T (p.Ile352=)	KDF1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 782077	NM_152365.3(KDF1):c.1040-6C>T	KDF1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2758886	NM_152365.3(KDF1):c.910A>G (p.Ile304Val)	KDF1 (I304V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1996322	NM_152365.3(KDF1):c.860_886dup (p.Gly295_Arg296insHisLeuAspGluGlnAspAlaGluGly)	KDF1	Duplication (inframe_insertion)	not provided	GUncertain significance
Select item 1594784	NM_152365.3(KDF1):c.849G>A (p.Thr283=)	KDF1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2717585	NM_152365.3(KDF1):c.845T>G (p.Ile282Ser)	KDF1 (I282S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2177954	NM_152365.3(KDF1):c.705G>A (p.Ser235=)	KDF1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2049806	NM_152365.3(KDF1):c.657C>A (p.Phe219Leu)	KDF1 (F219L)	Single nucleotide variant (missense variant)	Ectodermal dysplasia 12, hypohidrotic/hair/tooth/nail type +1 more	GLikely benign
Select item 2044663	NM_152365.3(KDF1):c.613A>G (p.Thr205Ala)	KDF1 (T205A)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 2103873	NM_152365.3(KDF1):c.579C>A (p.Ala193=)	KDF1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 718390	NM_152365.3(KDF1):c.566A>G (p.Lys189Arg)	KDF1 (K189R)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2962187	NM_152365.3(KDF1):c.524C>T (p.Pro175Leu)	KDF1 (P175L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1912348	NM_152365.3(KDF1):c.450G>A (p.Arg150=)	KDF1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 782681	NM_152365.3(KDF1):c.433C>T (p.Arg145Trp)	KDF1 (R145W)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2174527	NM_152365.3(KDF1):c.418C>A (p.Arg140Ser)	KDF1 (R140S)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1540208	NM_152365.3(KDF1):c.351C>T (p.Asp117=)	KDF1	Single nucleotide variant (synonymous variant)	Ectodermal dysplasia 12, hypohidrotic/hair/tooth/nail type +1 more	GBenign
Select item 1560051	NM_152365.3(KDF1):c.319C>T (p.Arg107Trp)	KDF1 (R107W)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2857743	NM_152365.3(KDF1):c.302G>A (p.Arg101His)	KDF1 (R101H)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 1570987	NM_152365.3(KDF1):c.299A>G (p.Gln100Arg)	KDF1 (Q100R)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2374628	NM_152365.3(KDF1):c.283T>C (p.Cys95Arg)	KDF1 (C95R)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 2200973	NM_152365.3(KDF1):c.260G>A (p.Arg87Gln)	KDF1 (R87Q)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2107400	NM_152365.3(KDF1):c.234G>C (p.Trp78Cys)	KDF1 (W78C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 777325	NM_152365.3(KDF1):c.201G>A (p.Pro67=)	KDF1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2067962	NM_152365.3(KDF1):c.200C>T (p.Pro67Leu)	KDF1 (P67L)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2801547	NM_152365.3(KDF1):c.158A>G (p.His53Arg)	KDF1 (H53R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2046799	NM_152365.3(KDF1):c.62G>A (p.Arg21Gln)	KDF1 (R21Q)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2174963	NM_152365.3(KDF1):c.54G>A (p.Pro18=)	KDF1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1722844	NM_152365.3(KDF1):c.8G>A (p.Arg3His)	KDF1 (R3H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2427360	NC_000001.10:g.(?_27276560)_(27278871_?)dup	KDF1	Duplication	not provided	GUncertain significance
Select item 2426901	NC_000001.10:g.(?_25870190)_(27278871_?)dup	ARID1A, AUNIP +33 more	Duplication	Retinitis pigmentosa 59	GUncertain significance
Select item 1412090	NC_000001.10:g.(?_27117307)_(27480825_?)dup	ZDHHC18, GPATCH3 +9 more	Duplication	not provided	GUncertain significance

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Items: 37