GRHL1[gene] - ClinVar

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Items: 47

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 153520	GRCh38/hg38 2p25.3-23.3(chr2:12770-25039694)x3	LOC129933244, LOC129933245 +653 more	Copy number gain	See cases	GPathogenic
Select item 153441	GRCh38/hg38 2p25.3-22.3(chr2:12770-33711509)x3	LOC126806103, LOC126806104 +1047 more	Copy number gain	See cases	GPathogenic
Select item 152693	GRCh38/hg38 2p25.3-24.1(chr2:17019-20001056)x3	ACP1, ADAM17 +498 more	Copy number gain	See cases	GPathogenic
Select item 148269	GRCh38/hg38 2p25.3-23.3(chr2:17019-26318846)x3	LOC129933186, LOC129933187 +736 more	Copy number gain	See cases	GPathogenic
Select item 146072	GRCh38/hg38 2p25.3-23.2(chr2:30341-28419664)x3	ABHD1, ACP1 +893 more	Copy number gain	See cases	GPathogenic
Select item 59131	GRCh38/hg38 2p25.3-24.3(chr2:30342-14866951)x3	ACP1, ADAM17 +413 more	Copy number gain	See cases	GPathogenic
Select item 59133	GRCh38/hg38 2p25.3-16.1(chr2:66097-55570637)x3	LOC129933311, LOC129933312 +1631 more	Copy number gain	See cases	GPathogenic
Select item 155615	GRCh38/hg38 2p25.3-21(chr2:236816-45983232)x3	LINC01115, LINC01121 +1400 more	Copy number gain	See cases	GPathogenic
Select item 148848	GRCh38/hg38 2p25.3-24.1(chr2:1664615-23664142)x3	ADAM17, ADI1 +546 more	Copy number gain	See cases	GPathogenic
Select item 60105	GRCh38/hg38 2p25.2-24.3(chr2:6531172-16103799)x1	ADAM17, ASAP2 +297 more	Copy number loss	See cases	GPathogenic
Select item 152995	GRCh38/hg38 2p25.1-11.2(chr2:7495123-87705899)x3	HAAO, HADHA +2457 more	Copy number gain	See cases	GBenign
Select item 3102288	NM_198182.3(GRHL1):c.80C>G (p.Thr27Ser)	GRHL1 (T27S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2612633	NM_198182.3(GRHL1):c.121C>T (p.Leu41Phe)	GRHL1 (L41F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 785957	NM_198182.3(GRHL1):c.174C>G (p.Ala58=)	GRHL1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2371943	NM_198182.3(GRHL1):c.261G>C (p.Glu87Asp)	GRHL1 (E87D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3282670	NM_198182.3(GRHL1):c.263C>G (p.Pro88Arg)	GRHL1 (P88R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2480368	NM_198182.3(GRHL1):c.268C>A (p.His90Asn)	GRHL1 (H90N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2223077	NM_198182.3(GRHL1):c.301G>A (p.Glu101Lys)	GRHL1 (E101K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3102284	NM_198182.3(GRHL1):c.304C>A (p.Gln102Lys)	GRHL1 (Q102K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2507611	NM_198182.3(GRHL1):c.350A>C (p.Asn117Thr)	GRHL1 (N117T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2608736	NM_198182.3(GRHL1):c.392G>A (p.Gly131Asp)	GRHL1 (G131D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3102285	NM_198182.3(GRHL1):c.500C>T (p.Ala167Val)	GRHL1 (A167V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2595882	NM_198182.3(GRHL1):c.571A>G (p.Asn191Asp)	GRHL1 (N191D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2553680	NM_198182.3(GRHL1):c.592G>C (p.Gly198Arg)	GRHL1 (G198R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2248819	NM_198182.3(GRHL1):c.697C>T (p.Arg233Trp)	GRHL1 (R233W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3102287	NM_198182.3(GRHL1):c.809C>T (p.Thr270Ile)	GRHL1 (T270I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2270323	NM_198182.3(GRHL1):c.991G>A (p.Ala331Thr)	GRHL1 (A331T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3102280	NM_198182.3(GRHL1):c.1196C>T (p.Thr399Ile)	GRHL1 (T399I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3102281	NM_198182.3(GRHL1):c.1235G>A (p.Arg412Gln)	GRHL1 (R412Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3282671	NM_198182.3(GRHL1):c.1349C>A (p.Pro450His)	GRHL1 (P450H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2689157	NM_198182.3(GRHL1):c.1360C>T (p.Arg454Ter)	GRHL1 (R454*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 3102282	NM_198182.3(GRHL1):c.1388T>G (p.Phe463Cys)	GRHL1 (F463C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2409504	NM_198182.3(GRHL1):c.1570C>G (p.Arg524Gly)	GRHL1 (R524G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2283989	NM_198182.3(GRHL1):c.1603G>A (p.Val535Ile)	GRHL1 (V535I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2288683	NM_198182.3(GRHL1):c.1693G>A (p.Asp565Asn)	GRHL1 (D565N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3102283	NM_198182.3(GRHL1):c.1837C>T (p.Leu613Phe)	GRHL1 (L613F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3148883	GRCh37/hg19 2p25.3-22.3(chr2:12771-35541353)x3	ABHD1, ACP1 +182 more	Copy number gain	See cases	GPathogenic
Select item 3062591	GRCh37/hg19 2p25.2-24.1(chr2:6375088-23538518)x3	APOB, ASAP2 +59 more	Copy number gain	not specified	GPathogenic
Select item 2426589	NC_000002.11:g.(?_7968276)_(10192634_?)dup	ADAM17, ASAP2 +10 more	Duplication	not provided	GUncertain significance
Select item 2426587	NC_000002.11:g.(?_7968276)_(10192634_?)del	ADAM17, ASAP2 +10 more	Deletion	not provided	GPathogenic
Select item 1808629	GRCh37/hg19 2p25.3-22.3(chr2:706460-35523639)x3	ABHD1, ADAM17 +177 more	Copy number gain	not provided	GPathogenic
Select item 1703543	GRCh37/hg19 2p25.3-q37.3(chr2:1-243199373)	ABCA12, ABCB11 +1216 more	Copy number gain	Mosaic trisomy 2	GPathogenic
Select item 1340626	GRCh37/hg19 2p25.1(chr2:9717186-12013065)x1	ATP6V1C2, C2orf48 +19 more	Copy number loss	not provided	GUncertain significance
Select item 1340405	GRCh37/hg19 2p25.1-24.3(chr2:8935077-15722794)x1	ADAM17, ASAP2 +29 more	Copy number loss	not provided	GUncertain significance
Select item 443675	GRCh37/hg19 2p25.3-24.1(chr2:12770-20081474)x3	ACP1, ADAM17 +65 more	Copy number gain	See cases	GPathogenic
Select item 442998	GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)	RGPD4, RGPD5 +1214 more	Copy number gain	See cases	GPathogenic
Select item 442997	GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)x3	IL1F10, IL1R1 +1214 more	Copy number gain	See cases	GPathogenic

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Items: 47