GRK7[gene] - ClinVar

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Items: 53

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 154258	GRCh38/hg38 3q11.1-24(chr3:93800620-145695381)x3	AMOTL2, DNAJC13 +1343 more	Copy number gain	See cases	GPathogenic
Select item 145614	GRCh38/hg38 3q13.11-29(chr3:103426882-198110178)x3	BPESC1, BTLA +2645 more	Copy number gain	See cases	GPathogenic
Select item 147358	GRCh38/hg38 3q22.1-24(chr3:129817243-143381624)x1	ARMC8, ASTE1 +345 more	Copy number loss	See cases	GPathogenic
Select item 155567	GRCh38/hg38 3q22.1-24(chr3:132716978-144784743)x1	A4GNT, AMOTL2 +301 more	Copy number loss	See cases	GPathogenic
Select item 149077	GRCh38/hg38 3q22.2-25.1(chr3:134257180-149729538)x1	LOC129937661, LOC129937662 +320 more	Copy number loss	See cases	GPathogenic
Select item 57832	GRCh38/hg38 3q22.2-24(chr3:135227451-145870770)x1	A4GNT, ARMC8 +221 more	Copy number loss	See cases	GPathogenic
Select item 145313	GRCh38/hg38 3q22.3-24(chr3:137932000-144468739)x1	A4GNT, ARMC8 +171 more	Copy number loss	See cases	GPathogenic
Select item 150251	GRCh38/hg38 3q22.3-24(chr3:137991123-143618786)x1	A4GNT, ARMC8 +155 more	Copy number loss	See cases	GPathogenic
Select item 57835	GRCh38/hg38 3q23-24(chr3:141751960-148246189)x1	ATP1B3, ATR +107 more	Copy number loss	See cases	GPathogenic
Select item 3102631	NM_139209.3(GRK7):c.58C>T (p.Arg20Trp)	GRK7 (R20W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3102634	NM_139209.3(GRK7):c.94C>T (p.Arg32Trp)	GRK7 (R32W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3102627	NM_139209.3(GRK7):c.139G>A (p.Glu47Lys)	GRK7 (E47K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2511088	NM_139209.3(GRK7):c.196G>C (p.Gly66Arg)	GRK7 (G66R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2283806	NM_139209.3(GRK7):c.382C>G (p.Gln128Glu)	GRK7 (Q128E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2520067	NM_139209.3(GRK7):c.401G>A (p.Cys134Tyr)	GRK7 (C134Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2290942	NM_139209.3(GRK7):c.517G>A (p.Asp173Asn)	GRK7 (D173N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2462921	NM_139209.3(GRK7):c.532T>C (p.Trp178Arg)	GRK7 (W178R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2624410	NM_139209.3(GRK7):c.553C>T (p.Pro185Ser)	GRK7 (P185S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2370562	NM_139209.3(GRK7):c.574A>G (p.Thr192Ala)	GRK7 (T192A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2237045	NM_139209.3(GRK7):c.656G>A (p.Cys219Tyr)	GRK7 (C219Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2599879	NM_139209.3(GRK7):c.705G>A (p.Met235Ile)	GRK7 (M235I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2409744	NM_139209.3(GRK7):c.707C>G (p.Ala236Gly)	GRK7 (A236G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2489637	NM_139209.3(GRK7):c.709C>T (p.Leu237Phe)	GRK7 (L237F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2256452	NM_139209.3(GRK7):c.733A>G (p.Lys245Glu)	GRK7 (K245E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3102632	NM_139209.3(GRK7):c.736G>A (p.Val246Ile)	GRK7 (V246I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3102633	NM_139209.3(GRK7):c.845A>C (p.Asn282Thr)	GRK7 (N282T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2259599	NM_139209.3(GRK7):c.847G>A (p.Val283Met)	GRK7 (V283M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2260903	NM_139209.3(GRK7):c.853A>T (p.Thr285Ser)	GRK7 (T285S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2391786	NM_139209.3(GRK7):c.875G>A (p.Arg292Gln)	GRK7 (R292Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2340334	NM_139209.3(GRK7):c.955C>A (p.Pro319Thr)	GRK7 (P319T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2216772	NM_139209.3(GRK7):c.1052C>A (p.Ala351Asp)	GRK7 (A351D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2509099	NM_139209.3(GRK7):c.1109A>G (p.Tyr370Cys)	GRK7 (Y370C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2376413	NM_139209.3(GRK7):c.1152G>T (p.Met384Ile)	GRK7 (M384I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3102625	NM_139209.3(GRK7):c.1192G>T (p.Val398Phe)	GRK7 (V398F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2550751	NM_139209.3(GRK7):c.1192G>A (p.Val398Ile)	GRK7 (V398I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2389279	NM_139209.3(GRK7):c.1192G>C (p.Val398Leu)	GRK7 (V398L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2561161	NM_139209.3(GRK7):c.1231G>A (p.Glu411Lys)	GRK7 (E411K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2235494	NM_139209.3(GRK7):c.1297A>G (p.Lys433Glu)	GRK7 (K433E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3102626	NM_139209.3(GRK7):c.1299G>C (p.Lys433Asn)	GRK7 (K433N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2472752	NM_139209.3(GRK7):c.1313G>A (p.Arg438His)	GRK7 (R438H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3102628	NM_139209.3(GRK7):c.1409C>T (p.Pro470Leu)	GRK7 (P470L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2511500	NM_139209.3(GRK7):c.1495G>A (p.Asp499Asn)	GRK7 (D499N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3102629	NM_139209.3(GRK7):c.1604G>C (p.Arg535Thr)	GRK7 (R535T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2671595	Single allele	AADAC, AADACL2 +286 more	Duplication	not provided	GPathogenic
Select item 2671581	Single allele	TFDP2, TRIM42 +26 more	Deletion	not provided	GPathogenic
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 1047879	GRCh37/hg19 3q22.3-26.1(chr3:138173683-162494699)	CHST2, CLRN1 +115 more	Copy number gain	Global developmental delay	GPathogenic
Select item 980063	GRCh37/hg19 3q23(chr3:138737687-142053396)x1	PRR23C, CLSTN2 +18 more	Copy number loss	not provided	GPathogenic
Select item 929388	GRCh37/hg19 3q22.3-26.1(chr3:138145289-162275610)x3	AADAC, AADACL2 +115 more	Copy number gain	See cases	GPathogenic
Select item 625695	GRCh37/hg19 3q22.2-24(chr3:135288025-146874012)	A4GNT, ARMC8 +54 more	Copy number gain	not provided	GPathogenic
Select item 442401	GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)x3	FBXL2, FBXO40 +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 253333	GRCh37/hg19 3q22.3-23(chr3:135935129-141867748)x3	ARMC8, ZBTB38 +36 more	Copy number gain	See cases	GLikely pathogenic

ClinVar

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Items: 53