CFAP36[gene] - ClinVar

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Items: 32

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59133	GRCh38/hg38 2p25.3-16.1(chr2:66097-55570637)x3	ABCG5, ABCG8 +1631 more	Copy number gain	See cases	GPathogenic
Select item 152995	GRCh38/hg38 2p25.1-11.2(chr2:7495123-87705899)x3	LOC126806252, LOC126806253 +2457 more	Copy number gain	See cases	GBenign
Select item 59143	GRCh38/hg38 2p22.1-16.1(chr2:40738282-57863821)x3	ABCG5, ABCG8 +443 more	Copy number gain	See cases	GPathogenic
Select item 58869	GRCh38/hg38 2p16.1(chr2:55426587-56072649)x3	CFAP36, EFEMP1 +17 more	Copy number gain	See cases	GUncertain significance
Select item 2613898	NM_080667.7(CFAP36):c.87C>G (p.Ile29Met)	CFAP36 (I29M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2265172	NM_080667.7(CFAP36):c.298G>T (p.Val100Leu)	CFAP36 (V100L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2459739	NM_080667.7(CFAP36):c.311A>C (p.Glu104Ala)	CFAP36 (E129A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2229978	NM_080667.7(CFAP36):c.353T>C (p.Ile118Thr)	CFAP36 (I118T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2461213	NM_080667.7(CFAP36):c.395A>G (p.Asn132Ser)	CFAP36 (N132S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2316619	NM_080667.7(CFAP36):c.419C>T (p.Thr140Ile)	CFAP36 (T140I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2605366	NM_080667.7(CFAP36):c.451C>T (p.His151Tyr)	CFAP36 (H151Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3143449	NM_080667.7(CFAP36):c.456A>C (p.Glu152Asp)	CFAP36 (E152D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2291672	NM_080667.7(CFAP36):c.527G>C (p.Arg176Thr)	CFAP36 (R176T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2275120	NM_080667.7(CFAP36):c.761T>C (p.Ile254Thr)	CFAP36 (I254T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3266429	NM_080667.7(CFAP36):c.784T>C (p.Ser262Pro)	CFAP36 (S262P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3143450	NM_080667.7(CFAP36):c.841G>T (p.Asp281Tyr)	CFAP36 (D306Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2214362	NM_080667.7(CFAP36):c.857T>A (p.Met286Lys)	CFAP36 (M311K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3143451	NM_080667.7(CFAP36):c.862A>C (p.Lys288Gln)	CFAP36 (K288Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2245196	NM_080667.7(CFAP36):c.886C>G (p.Gln296Glu)	CFAP36 (Q296E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2529377	NM_080667.7(CFAP36):c.935C>T (p.Thr312Ile)	CFAP36 (T337I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2410366	NM_080667.7(CFAP36):c.971C>T (p.Thr324Ile)	CFAP36 (T324I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1807595	GRCh37/hg19 2p16.2-16.1(chr2:54780778-55935168)x3	CCDC88A, CFAP36 +8 more	Copy number gain	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 1526740	GRCh37/hg19 2p16.1(chr2:55588867-56935857)	CCDC85A, CCDC88A +6 more	Copy number loss	not specified	GUncertain significance
Select item 814265	GRCh37/hg19 2p16.1(chr2:55616424-56026559)x3	PNPT1, PPP4R3B +2 more	Copy number gain	not provided	GUncertain significance
Select item 562680	GRCh37/hg19 2p22.3-16.1(chr2:34792916-56676541)x3	ABCG5, ABCG8 +100 more	Copy number gain	not provided	GPathogenic
Select item 524189	Single allele	ACMSD, C2orf27A +486 more	Deletion	not provided	GLikely pathogenic
Select item 443680	GRCh37/hg19 2p16.1(chr2:55588867-56927117)x1	CCDC85A, CCDC88A +6 more	Copy number loss	See cases	GUncertain significance
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 402127	GRCh37/hg19 2p23.3-16.1(chr2:27861707-60790985)x3	ABCG5, ABCG8 +139 more	Copy number gain	See cases	GPathogenic

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Items: 32