ClinVar for Gene (Select 9119) - ClinVar

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Links from Gene

Items: 70

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3116663	NM_004693.3(KRT75):c.998G>A (p.Arg333His)	KRT75 (R333H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3116662	NM_004693.3(KRT75):c.939C>G (p.Asn313Lys)	KRT75 (N313K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3116660	NM_004693.3(KRT75):c.868G>A (p.Ala290Thr)	KRT75 (A290T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3116659	NM_004693.3(KRT75):c.857C>T (p.Ser286Leu)	KRT75 (S286L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3116658	NM_004693.3(KRT75):c.811G>A (p.Glu271Lys)	KRT75 (E271K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3116657	NM_004693.3(KRT75):c.758T>C (p.Phe253Ser)	KRT75 (F253S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3116656	NM_004693.3(KRT75):c.62C>T (p.Ser21Leu)	KRT75 (S21L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3116655	NM_004693.3(KRT75):c.497A>G (p.Lys166Arg)	KRT75 (K166R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3116654	NM_004693.3(KRT75):c.436C>T (p.Arg146Trp)	KRT75 (R146W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3116652	NM_004693.3(KRT75):c.208C>T (p.Arg70Trp)	KRT75 (R70W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3116651	NM_004693.3(KRT75):c.200G>A (p.Gly67Asp)	KRT75 (G67D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3116650	NM_004693.3(KRT75):c.1586T>C (p.Leu529Ser)	KRT75 (L529S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3116649	NM_004693.3(KRT75):c.133G>A (p.Gly45Arg)	KRT75 (G45R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3063247	GRCh37/hg19 12q13.13(chr12:52654531-52846133)x1	KRT6B, KRT75 +6 more	Copy number loss	not specified	GUncertain significance
Select item 3063245	GRCh37/hg19 12q13.13(chr12:52654531-52847289)x1	KRT6B, KRT75 +6 more	Copy number loss	not specified	GUncertain significance
Select item 3060549	NM_004693.3(KRT75):c.303G>A (p.Gly101=)	KRT75	Single nucleotide variant (synonymous variant)	KRT75-related condition	GBenign
Select item 3060046	NM_004693.3(KRT75):c.349C>G (p.Pro117Ala)	KRT75 (P117A)	Single nucleotide variant (missense variant)	KRT75-related condition	GBenign
Select item 3059432	NM_004693.3(KRT75):c.1580G>A (p.Arg527Gln)	KRT75 (R527Q)	Single nucleotide variant (missense variant)	KRT75-related condition	GBenign
Select item 3053099	NM_004693.3(KRT75):c.1162-9T>C	KRT75	Single nucleotide variant (intron variant)	KRT75-related condition	GLikely benign
Select item 3052842	NM_004693.3(KRT75):c.718G>A (p.Glu240Lys)	KRT75 (E240K)	Single nucleotide variant (missense variant)	KRT75-related condition	GLikely benign
Select item 3049320	NM_004693.3(KRT75):c.997C>T (p.Arg333Cys)	KRT75 (R333C)	Single nucleotide variant (missense variant)	KRT75-related condition	GLikely benign
Select item 3044450	NM_004693.3(KRT75):c.357A>G (p.Gly119=)	KRT75	Single nucleotide variant (synonymous variant)	KRT75-related condition	GLikely benign
Select item 3044179	NM_004693.3(KRT75):c.956T>A (p.Ile319Asn)	KRT75 (I319N)	Single nucleotide variant (missense variant)	KRT75-related condition	GBenign
Select item 3044102	NM_004693.3(KRT75):c.626G>A (p.Arg209Gln)	KRT75 (R209Q)	Single nucleotide variant (missense variant)	KRT75-related condition	GBenign
Select item 3042909	NM_004693.3(KRT75):c.483C>T (p.Ala161=)	KRT75	Single nucleotide variant (synonymous variant)	KRT75-related condition	GLikely benign
Select item 3037706	NM_004693.3(KRT75):c.1009G>A (p.Glu337Lys)	KRT75 (E337K)	Single nucleotide variant (missense variant)	KRT75-related condition	GBenign
Select item 3034930	NM_004693.3(KRT75):c.1383G>A (p.Arg461=)	KRT75	Single nucleotide variant (synonymous variant)	KRT75-related condition	GLikely benign
Select item 2616780	NM_004693.3(KRT75):c.1113C>A (p.Asn371Lys)	KRT75 (N371K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2603671	NM_004693.3(KRT75):c.1286G>A (p.Arg429Gln)	KRT75 (R429Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2599178	NM_004693.3(KRT75):c.1178C>A (p.Thr393Lys)	KRT75 (T393K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2594570	NM_004693.3(KRT75):c.157G>T (p.Ala53Ser)	KRT75 (A53S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2569076	NM_004693.3(KRT75):c.1075G>C (p.Asp359His)	KRT75 (D359H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2553688	NM_004693.3(KRT75):c.889A>T (p.Thr297Ser)	KRT75 (T297S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2547344	NM_004693.3(KRT75):c.68T>A (p.Ile23Asn)	KRT75 (I23N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2541585	NM_004693.3(KRT75):c.178C>T (p.Arg60Cys)	KRT75 (R60C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2514303	NM_004693.3(KRT75):c.869C>T (p.Ala290Val)	KRT75 (A290V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2510206	NM_004693.3(KRT75):c.1454G>A (p.Ser485Asn)	KRT75 (S485N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2507956	NM_004693.3(KRT75):c.197G>C (p.Gly66Ala)	KRT75 (G66A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2489273	NM_004693.3(KRT75):c.653G>A (p.Arg218Lys)	KRT75 (R218K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2483644	NM_004693.3(KRT75):c.280G>T (p.Val94Phe)	KRT75 (V94F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2477690	NM_004693.3(KRT75):c.1463G>C (p.Ser488Thr)	KRT75 (S488T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2476422	NM_004693.3(KRT75):c.410A>T (p.Gln137Leu)	KRT75 (Q137L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2467406	NM_004693.3(KRT75):c.1489G>A (p.Gly497Ser)	KRT75 (G497S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2405575	NM_004693.3(KRT75):c.1469G>A (p.Gly490Glu)	KRT75 (G490E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2386697	NM_004693.3(KRT75):c.1456G>A (p.Gly486Ser)	KRT75 (G486S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2373107	NM_004693.3(KRT75):c.242G>A (p.Arg81Gln)	KRT75 (R81Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2370564	NM_004693.3(KRT75):c.1501G>A (p.Gly501Ser)	KRT75 (G501S)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2367843	NM_004693.3(KRT75):c.1328C>T (p.Ala443Val)	KRT75 (A443V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2366728	NM_004693.3(KRT75):c.874C>A (p.Leu292Met)	KRT75 (L292M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2366122	NM_004693.3(KRT75):c.218T>G (p.Ile73Ser)	KRT75 (I73S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2344677	NM_004693.3(KRT75):c.1082G>A (p.Arg361Gln)	KRT75 (R361Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2343999	NM_004693.3(KRT75):c.1115G>A (p.Arg372His)	KRT75 (R372H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2339819	NM_004693.3(KRT75):c.887A>T (p.Gln296Leu)	KRT75 (Q296L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2315059	NM_004693.3(KRT75):c.1183A>T (p.Ile395Phe)	KRT75 (I395F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2292804	NM_004693.3(KRT75):c.422C>A (p.Thr141Asn)	KRT75 (T141N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2275815	NM_004693.3(KRT75):c.236G>A (p.Ser79Asn)	KRT75 (S79N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2220976	NM_004693.3(KRT75):c.504G>T (p.Arg168Ser)	KRT75 (R168S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2217553	NM_004693.3(KRT75):c.889A>G (p.Thr297Ala)	KRT75 (T297A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2215019	NM_004693.3(KRT75):c.961G>A (p.Ala321Thr)	KRT75 (A321T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1049897	NM_004693.3(KRT75):c.1649C>A (p.Thr550Lys)	KRT75 (T550K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 788884	NM_004693.3(KRT75):c.1099A>G (p.Ile367Val)	KRT75 (I367V)	Single nucleotide variant (missense variant)	KRT75-related condition +1 more	GBenign
Select item 727363	NM_004693.3(KRT75):c.964G>A (p.Glu322Lys)	KRT75 (E322K)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 524190	NC_000012.11:g.26370251_54361538inv	AAAS, ABCD2 +212 more	Inversion	not specified	GUncertain significance
Select item 441984	GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)	HMGA2, HNF1A +1006 more	Copy number gain	See cases	GPathogenic
Select item 441983	GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)x3	A2M, A2ML1 +1006 more	Copy number gain	See cases	GPathogenic
Select item 268075	GRCh37/hg19 12p13.33-q24.33(chr12:1-133851895)x3	AGAP2, ARF3 +1007 more	Copy number gain	See cases	GPathogenic
Select item 153751	GRCh38/hg38 12q13.12-13.13(chr12:50122359-53248460)x1	ACVRL1, ANKRD33 +206 more	Copy number loss	See cases	GPathogenic
Select item 152062	GRCh38/hg38 12q13.12-13.13(chr12:50633888-52851909)x1	ACVR1B, ACVRL1 +136 more	Copy number loss	See cases	GPathogenic
Select item 150740	GRCh38/hg38 12p13.33-q24.33(chr12:121271-133196807)x3	LOC126861648, LOC126861649 +4836 more	Copy number gain	See cases	GPathogenic
Select item 1891	NM_004693.3(KRT75):c.481G>A (p.Ala161Thr)	KRT75 (A161T)	Single nucleotide variant (missense variant)	KRT75-related condition	GBenign

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Links from Gene

Items: 70