ClinVar for Gene (Select 28999) - ClinVar

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Links from Gene

Items: 49

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3288817	NM_014079.4(KLF15):c.1187T>G (p.Leu396Arg)	KLF15 (L396R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3288816	NM_014079.4(KLF15):c.397G>A (p.Val133Ile)	KLF15 (V133I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3115301	NM_014079.4(KLF15):c.85C>T (p.Arg29Trp)	KLF15 (R29W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3115300	NM_014079.4(KLF15):c.725C>A (p.Ala242Asp)	KLF15 (A242D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3115299	NM_014079.4(KLF15):c.667A>T (p.Ile223Phe)	KLF15 (I223F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3115298	NM_014079.4(KLF15):c.571C>T (p.Arg191Cys)	KLF15 (R191C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3115297	NM_014079.4(KLF15):c.370G>A (p.Glu124Lys)	KLF15 (E124K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3115296	NM_014079.4(KLF15):c.1238G>T (p.Arg413Leu)	KLF15 (R413L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3062736	GRCh37/hg19 3q21.2-21.3(chr3:124119718-127457671)x1	ABTB1, ALDH1L1 +26 more	Copy number loss	not specified	GUncertain significance
Select item 2654093	NM_014079.4(KLF15):c.38C>T (p.Ser13Leu)	KLF15 (S13L)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2529021	NM_014079.4(KLF15):c.952A>G (p.Ile318Val)	KLF15 (I318V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2527213	NM_014079.4(KLF15):c.590G>C (p.Gly197Ala)	KLF15 (G197A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2495176	NM_014079.4(KLF15):c.191A>G (p.Tyr64Cys)	KLF15 (Y64C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2483775	NM_014079.4(KLF15):c.924G>T (p.Lys308Asn)	KLF15 (K308N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2471327	NM_014079.4(KLF15):c.100A>G (p.Met34Val)	KLF15 (M34V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2457167	NM_014079.4(KLF15):c.965A>G (p.Lys322Arg)	KLF15 (K322R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2454467	NM_014079.4(KLF15):c.646C>T (p.Pro216Ser)	KLF15 (P216S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2394458	NM_014079.4(KLF15):c.88C>T (p.Arg30Trp)	KLF15 (R30W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2360072	NM_014079.4(KLF15):c.1030C>T (p.Arg344Trp)	KLF15 (R344W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2344558	NM_014079.4(KLF15):c.1054G>A (p.Ala352Thr)	KLF15 (A352T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2340223	NM_014079.4(KLF15):c.724G>A (p.Ala242Thr)	KLF15 (A242T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2330388	NM_014079.4(KLF15):c.403C>T (p.Arg135Trp)	KLF15 (R135W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2329819	NM_014079.4(KLF15):c.572G>A (p.Arg191His)	KLF15 (R191H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2312662	NM_014079.4(KLF15):c.658T>G (p.Leu220Val)	KLF15 (L220V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2299303	NM_014079.4(KLF15):c.1237C>A (p.Arg413Ser)	KLF15 (R413S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2293651	NM_014079.4(KLF15):c.712T>C (p.Ser238Pro)	KLF15 (S238P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2291391	NM_014079.4(KLF15):c.1194G>T (p.Lys398Asn)	KLF15 (K398N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2279257	NM_014079.4(KLF15):c.787G>A (p.Val263Met)	KLF15 (V263M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2220709	NM_014079.4(KLF15):c.1228C>T (p.Arg410Cys)	KLF15 (R410C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2218956	NM_014079.4(KLF15):c.914T>C (p.Met305Thr)	KLF15 (M305T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1807815	GRCh37/hg19 3q13.31-26.31(chr3:116620308-172042292)x3	A4GNT, AADAC +303 more	Copy number gain	not provided	GPathogenic
Select item 1704652	GRCh37/hg19 3q21.2-21.3(chr3:124981934-126093700)x3	ALDH1L1, KLF15 +5 more	Copy number gain	Chromosome 16 trisomy	GUncertain significance
Select item 1527040	GRCh37/hg19 3q21.2-21.3(chr3:124990058-126401548)	ALDH1L1, C3orf22 +12 more	Copy number gain	not specified	GUncertain significance
Select item 1452099	NC_000003.11:g.(?_120365818)_(133465047_?)del	ABTB1, ACAD11 +109 more	Deletion	Alkaptonuria	GPathogenic
Select item 1183991	Single allele	ABTB1, ACAD9 +59 more	Deletion	Deafness-lymphedema-leukemia syndrome +1 more	GPathogenic
Select item 1183989	Single allele	ABTB1, ADCY5 +69 more	Deletion	Deafness-lymphedema-leukemia syndrome +1 more	GPathogenic
Select item 685939	GRCh37/hg19 3q21.2-21.3(chr3:124981934-126088215)x3	ALDH1L1, KLF15 +5 more	Copy number gain	not provided	GUncertain significance
Select item 625698	GRCh37/hg19 3q21.2-21.3(chr3:124369671-126423192)	ALDH1L1, C3orf22 +19 more	Copy number loss	not provided	GLikely pathogenic
Select item 442544	GRCh37/hg19 3q21.2-21.3(chr3:124990032-126088215)x3	ALDH1L1, KLF15 +5 more	Copy number gain	See cases	GUncertain significance
Select item 442401	GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)x3	HHLA2, HIGD1A +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 442219	GRCh37/hg19 3q21.2-21.3(chr3:124981934-126087100)x3	ALDH1L1, KLF15 +5 more	Copy number gain	See cases	GUncertain significance
Select item 155628	GRCh38/hg38 3q13.32-21.3(chr3:118673898-126540730)x1	ADCY5, ADPRH +326 more	Copy number loss	See cases	GPathogenic
Select item 154258	GRCh38/hg38 3q11.1-24(chr3:93800620-145695381)x3	PDIA5, PHLDB2 +1344 more	Copy number gain	See cases	GPathogenic
Select item 153723	GRCh38/hg38 3q21.3-23(chr3:126106779-140918089)x3	LOC129937605, LOC129937606 +484 more	Copy number gain	See cases	GUncertain significance
Select item 152210	GRCh38/hg38 3q13.33-21.3(chr3:121925147-126782249)x1	LOC129937447, LOC129937448 +214 more	Copy number loss	See cases	GPathogenic
Select item 150138	GRCh38/hg38 3q13.2-21.3(chr3:112620977-128734134)x1	LOC129937460, LOC129937461 +571 more	Copy number loss	See cases	GPathogenic
Select item 145614	GRCh38/hg38 3q13.11-29(chr3:103426882-198110178)x3	LOC115995524, LOC115995525 +2647 more	Copy number gain	See cases	GPathogenic
Select item 57791	GRCh38/hg38 3q21.3(chr3:126167799-126819908)x3	ALDH1L1, ALDH1L1-AS2 +25 more	Copy number gain	See cases	GUncertain significance

ClinVar

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Germline classification

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Links from Gene

Items: 49