KRCC1[gene] - ClinVar

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Items: 37

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 145403	GRCh38/hg38 2p12-11.2(chr2:77025216-90282666)x3	ATOH8, C2orf68 +302 more	Copy number gain	See cases	GPathogenic
Select item 153632	GRCh38/hg38 2p11.2(chr2:85014686-88826619)x1	ATOH8, C2orf68 +179 more	Copy number loss	See cases	GPathogenic
Select item 146363	GRCh38/hg38 2p11.2-11.1(chr2:87098178-91884275)x3	LOC122787150, LOC122787151 +104 more	Copy number gain	See cases	GUncertain significance
Select item 148476	GRCh38/hg38 2p11.2(chr2:87375475-90282666)x3	CYTOR, EIF2AK3 +101 more	Copy number gain	See cases	GUncertain significance
Select item 3289279	NM_016618.3(KRCC1):c.695G>A (p.Arg232His)	KRCC1 (R232H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2548345	NM_016618.3(KRCC1):c.661A>G (p.Lys221Glu)	KRCC1 (K221E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2321134	NM_016618.3(KRCC1):c.608A>G (p.Glu203Gly)	KRCC1 (E203G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2514543	NM_016618.3(KRCC1):c.523C>T (p.Arg175Trp)	KRCC1 (R175W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2559501	NM_016618.3(KRCC1):c.515A>C (p.Glu172Ala)	KRCC1 (E172A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3116252	NM_016618.3(KRCC1):c.485G>A (p.Arg162Lys)	KRCC1 (R162K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2543272	NM_016618.3(KRCC1):c.455G>C (p.Ser152Thr)	KRCC1 (S152T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3289281	NM_016618.3(KRCC1):c.421T>C (p.Ser141Pro)	KRCC1 (S141P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3289280	NM_016618.3(KRCC1):c.391G>A (p.Gly131Ser)	KRCC1 (G131S)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3116251	NM_016618.3(KRCC1):c.389A>G (p.His130Arg)	KRCC1 (H130R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3289278	NM_016618.3(KRCC1):c.322A>G (p.Arg108Gly)	KRCC1 (R108G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3116250	NM_016618.3(KRCC1):c.302T>C (p.Leu101Pro)	KRCC1 (L101P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3116249	NM_016618.3(KRCC1):c.251G>A (p.Arg84Gln)	KRCC1 (R84Q)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2548620	NM_016618.3(KRCC1):c.235C>A (p.Gln79Lys)	KRCC1 (Q79K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2308963	NM_016618.3(KRCC1):c.233C>T (p.Pro78Leu)	KRCC1 (P78L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2610148	NM_016618.3(KRCC1):c.137A>T (p.Tyr46Phe)	KRCC1 (Y46F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2289853	NM_016618.3(KRCC1):c.118T>C (p.Tyr40His)	KRCC1 (Y40H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2224868	NM_016618.3(KRCC1):c.70G>A (p.Ala24Thr)	KRCC1 (A24T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3116253	NM_016618.3(KRCC1):c.53A>T (p.Tyr18Phe)	KRCC1 (Y18F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3062514	GRCh37/hg19 2p11.2(chr2:88134750-89126290)x1	EIF2AK3, FABP1 +6 more	Copy number loss	not specified	GUncertain significance
Select item 1808125	GRCh37/hg19 2p11.2(chr2:88046609-89126291)x1	RPIA, SMYD1 +7 more	Copy number loss	not provided	GUncertain significance
Select item 1708190	GRCh37/hg19 2p25.1-q13(chr2:11504318-111365996)x1	ACTG2, ACTR1B +529 more	Copy number loss	See cases	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 1526862	GRCh37/hg19 2p11.2(chr2:88180842-89126291)	EIF2AK3, FABP1 +6 more	Copy number loss	not specified	GUncertain significance
Select item 1526851	GRCh37/hg19 2p11.2(chr2:88046608-89126291)	EIF2AK3, FABP1 +7 more	Copy number loss	not specified	GUncertain significance
Select item 1176758	GRCh37/hg19 2p11.2(chr2:88007281-90260248)x1	EIF2AK3, FABP1 +8 more	Copy number loss	not provided	GPathogenic
Select item 562678	GRCh37/hg19 2p13.1-11.2(chr2:74527522-89125488)x1	ATOH8, AUP1 +78 more	Copy number loss	not provided	GPathogenic
Select item 562600	GRCh37/hg19 2p11.2(chr2:88268212-88842463)x3	SMYD1, THNSL2 +4 more	Copy number gain	not provided	GLikely benign
Select item 524189	Single allele	ACMSD, C2orf27A +486 more	Deletion	not provided	GLikely pathogenic
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
Select item 442637	GRCh37/hg19 2p11.2(chr2:88046608-89129064)x1	EIF2AK3, FABP1 +7 more	Copy number loss	See cases	Gconflicting data from submitters
Select item 442633	GRCh37/hg19 2p13.1-11.2(chr2:74365484-89129064)x1	SFTPB, SH2D6 +81 more	Copy number loss	See cases	GPathogenic

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Items: 37