KRT7[gene] - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 58

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 150740	GRCh38/hg38 12p13.33-q24.33(chr12:121271-133196807)x3	FERRY3, FGD4 +4837 more	Copy number gain	See cases	GPathogenic
Select item 153751	GRCh38/hg38 12q13.12-13.13(chr12:50122359-53248460)x1	LOC130007898, LOC130007899 +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 3116595	NM_005556.4(KRT7):c.44C>A (p.Ala15Asp)	KRT7 (A15D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 769820	NM_005556.4(KRT7):c.51C>A (p.Phe17Leu)	KRT7 (F17L)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 790656	NM_005556.4(KRT7):c.110G>A (p.Ser37Asn)	KRT7 (S37N)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2330390	NM_005556.4(KRT7):c.131C>G (p.Ala44Gly)	KRT7 (A44G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3289491	NM_005556.4(KRT7):c.164A>C (p.Tyr55Ser)	KRT7 (Y55S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3116593	NM_005556.4(KRT7):c.173C>T (p.Pro58Leu)	KRT7 (P58L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3289496	NM_005556.4(KRT7):c.196G>T (p.Val66Phe)	KRT7 (V66F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2338539	NM_005556.4(KRT7):c.247T>C (p.Ser83Pro)	KRT7 (S83P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3289490	NM_005556.4(KRT7):c.263G>A (p.Arg88His)	KRT7 (R88H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 745178	NM_005556.4(KRT7):c.264C>T (p.Arg88=)	KRT7	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2516620	NM_005556.4(KRT7):c.273G>C (p.Glu91Asp)	KRT7 (E91D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2224928	NM_005556.4(KRT7):c.326T>G (p.Val109Gly)	KRT7 (V109G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3116594	NM_005556.4(KRT7):c.344A>C (p.Gln115Pro)	KRT7 (Q115P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2525664	NM_005556.4(KRT7):c.409C>G (p.Leu137Val)	KRT7 (L137V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3289494	NM_005556.4(KRT7):c.445C>T (p.Arg149Trp)	KRT7 (R149W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3116596	NM_005556.4(KRT7):c.466C>A (p.Gln156Lys)	KRT7 (Q156K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3116597	NM_005556.4(KRT7):c.509A>C (p.Gln170Pro)	KRT7 (Q170P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3289493	NM_005556.4(KRT7):c.550A>C (p.Ile184Leu)	KRT7 (I184L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2512332	NM_005556.4(KRT7):c.701C>G (p.Thr234Arg)	KRT7 (T234R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3116598	NM_005556.4(KRT7):c.728C>T (p.Thr243Ile)	KRT7 (T243I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2348397	NM_005556.4(KRT7):c.736G>A (p.Val246Met)	KRT7 (V246M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2330792	NM_005556.4(KRT7):c.742T>C (p.Ser248Pro)	KRT7 (S248P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 714178	NM_005556.4(KRT7):c.784G>A (p.Ala262Thr)	KRT7 (A262T)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3116599	NM_005556.4(KRT7):c.842C>T (p.Ala281Val)	KRT7 (A281V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3116600	NM_005556.4(KRT7):c.864G>C (p.Glu288Asp)	KRT7 (E288D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3116601	NM_005556.4(KRT7):c.866C>T (p.Thr289Ile)	KRT7 (T289I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 785408	NM_005556.4(KRT7):c.906G>A (p.Arg302=)	KRT7	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2290435	NM_005556.4(KRT7):c.908A>G (p.Asn303Ser)	KRT7 (N303S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2624218	NM_005556.4(KRT7):c.917A>C (p.Asn306Thr)	KRT7 (N306T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2248915	NM_005556.4(KRT7):c.921G>C (p.Glu307Asp)	KRT7 (E307D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 778592	NM_005556.4(KRT7):c.937C>T (p.Arg313Trp)	KRT7 (R313W)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3289492	NM_005556.4(KRT7):c.938G>A (p.Arg313Gln)	KRT7 (R313Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2274122	NM_005556.4(KRT7):c.945C>G (p.Ile315Met)	KRT7 (I315M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3289499	NM_005556.4(KRT7):c.986G>A (p.Arg329His)	KRT7, KRT7-AS (R329H)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2267212	NM_005556.4(KRT7):c.1003G>A (p.Ala335Thr)	KRT7, KRT7-AS (A335T)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2486505	NM_005556.4(KRT7):c.1021G>A (p.Glu341Lys)	KRT7, KRT7-AS (E341K)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2368910	NM_005556.4(KRT7):c.1024C>T (p.Arg342Cys)	KRT7, KRT7-AS (R342C)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3289495	NM_005556.4(KRT7):c.1051C>T (p.Arg351Cys)	KRT7, KRT7-AS (R351C)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2294573	NM_005556.4(KRT7):c.1088G>A (p.Arg363Gln)	KRT7, KRT7-AS (R363Q)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2312379	NM_005556.4(KRT7):c.1118G>C (p.Arg373Pro)	KRT7, KRT7-AS (R373P)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2212028	NM_005556.4(KRT7):c.1123T>C (p.Tyr375His)	KRT7, KRT7-AS (Y375H)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3116592	NM_005556.4(KRT7):c.1171A>G (p.Thr391Ala)	KRT7, KRT7-AS (T391A)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3289497	NM_005556.4(KRT7):c.1192G>T (p.Gly398Cys)	KRT7, KRT7-AS (G398C)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 769821	NM_005556.4(KRT7):c.1275C>T (p.Gly425=)	KRT7	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3289498	NM_005556.4(KRT7):c.1280G>A (p.Gly427Asp)	KRT7 (G427D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2219473	NM_005556.4(KRT7):c.1292C>A (p.Thr431Asn)	KRT7 (T431N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 710358	NM_005556.4(KRT7):c.1292C>T (p.Thr431Ile)	KRT7 (T431I)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 768543	NM_005556.4(KRT7):c.1296C>T (p.Leu432=)	KRT7	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2215759	NM_005556.4(KRT7):c.1328T>G (p.Phe443Cys)	KRT7 (F443C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2617689	NM_005556.4(KRT7):c.1340C>T (p.Ala447Val)	KRT7 (A447V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 776703	NM_005556.4(KRT7):c.1391G>A (p.Arg464His)	KRT7 (R464H)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 524190	NC_000012.11:g.26370251_54361538inv	BICD1, HDAC7 +212 more	Inversion	not specified	GUncertain significance
Select item 441984	GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)	SLC15A5, SLC16A7 +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	GALNT8, H2AJ +1007 more	Copy number gain	See cases	GPathogenic

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 58