GFRAL[gene] - ClinVar

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Items: 41

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 145584	GRCh38/hg38 6p12.3-11.2(chr6:50971182-57432788)x1	BAG2, BEND6 +171 more	Copy number loss	See cases	GPathogenic
Select item 1809510	GRCh38/hg38 6p12.1-11.2(chr6:55755662-55874865)x2	LINC01564, LINC03001 +88 more	Copy number loss	Orofacial cleft	GUncertain significance
Select item 148002	GRCh38/hg38 6p12.1-q12(chr6:53931543-68149750)x3	BAG2, BEND6 +147 more	Copy number gain	See cases	GPathogenic
Select item 58429	GRCh38/hg38 6p12.1(chr6:54263893-56826637)x1	BMP5, COL21A1 +18 more	Copy number loss	See cases	GPathogenic
Select item 2603115	NM_207410.2(GFRAL):c.136G>A (p.Glu46Lys)	GFRAL (E46K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2216081	NM_207410.2(GFRAL):c.178A>T (p.Met60Leu)	GFRAL (M60L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2312679	NM_207410.2(GFRAL):c.282C>A (p.Asn94Lys)	GFRAL (N94K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3099507	NM_207410.2(GFRAL):c.377A>T (p.Lys126Ile)	GFRAL (K126I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3099508	NM_207410.2(GFRAL):c.553A>C (p.Met185Leu)	GFRAL (M185L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2508840	NM_207410.2(GFRAL):c.745A>G (p.Thr249Ala)	GFRAL (T249A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3099509	NM_207410.2(GFRAL):c.766G>A (p.Glu256Lys)	GFRAL (E256K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2409477	NM_207410.2(GFRAL):c.809C>T (p.Ser270Leu)	GFRAL (S270L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3281269	NM_207410.2(GFRAL):c.823T>C (p.Cys275Arg)	GFRAL (C275R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2471769	NM_207410.2(GFRAL):c.854C>T (p.Thr285Met)	GFRAL (T285M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3281268	NM_207410.2(GFRAL):c.877T>A (p.Cys293Ser)	GFRAL (C293S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 780120	NM_207410.2(GFRAL):c.891A>G (p.Thr297=)	GFRAL	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2618717	NM_207410.2(GFRAL):c.904T>A (p.Ser302Thr)	GFRAL (S302T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2474870	NM_207410.2(GFRAL):c.925C>A (p.His309Asn)	GFRAL (H309N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2278835	NM_207410.2(GFRAL):c.949T>G (p.Phe317Val)	GFRAL (F317V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2349301	NM_207410.2(GFRAL):c.994A>G (p.Thr332Ala)	GFRAL (T332A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2254164	NM_207410.2(GFRAL):c.1006G>T (p.Ala336Ser)	GFRAL (A336S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2332147	NM_207410.2(GFRAL):c.1045A>G (p.Asn349Asp)	GFRAL (N349D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3099506	NM_207410.2(GFRAL):c.1109T>C (p.Met370Thr)	GFRAL (M370T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2341625	NM_207410.2(GFRAL):c.1117C>T (p.Leu373Phe)	GFRAL (L373F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2213902	NM_207410.2(GFRAL):c.1117C>G (p.Leu373Val)	GFRAL (L373V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3281270	NM_207410.2(GFRAL):c.1118T>C (p.Leu373Pro)	GFRAL (L373P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3281271	NM_207410.2(GFRAL):c.1120A>G (p.Arg374Gly)	GFRAL (R374G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2398878	NM_207410.2(GFRAL):c.1129A>G (p.Arg377Gly)	GFRAL (R377G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2522801	NM_207410.2(GFRAL):c.1160C>T (p.Ser387Leu)	GFRAL (S387L)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2352249	NM_207410.2(GFRAL):c.1163T>C (p.Ile388Thr)	GFRAL (I388T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2613075	NM_207410.2(GFRAL):c.1171C>T (p.Pro391Ser)	GFRAL (P391S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2685203	GRCh37/hg19 6p12.3-12.1(chr6:50181657-55538355)x1	CILK1, EFHC1 +30 more	Copy number loss	not provided	GPathogenic
Select item 1808262	GRCh37/hg19 6p12.1(chr6:54926500-55647880)x3	BMP5, GFRAL +2 more	Copy number gain	not provided	GUncertain significance
Select item 1676306	GRCh37/hg19 6p21.1-q12(chr6:43636308-64947206)x3	PAQR8, PGK2 +92 more	Copy number gain	not provided	GLikely pathogenic
Select item 983177	GRCh37/hg19 6p12.3-12.1(chr6:48626041-55575545)x1	TFAP2D, TINAG +43 more	Copy number loss	See cases	GLikely pathogenic
Select item 686721	GRCh37/hg19 6p12.1(chr6:55053759-55499082)x1	GFRAL, HCRTR2 +1 more	Copy number loss	not provided	GUncertain significance
Select item 625706	GRCh37/hg19 6p22.1-q14.1(chr6:29455465-81447367)	ERVH-3, ETV7 +427 more	Copy number gain	not provided	GPathogenic
Select item 563183	GRCh37/hg19 6p12.1(chr6:55170511-55242253)x1	GFRAL	Copy number loss	not provided	GLikely benign
Select item 443497	GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)	AARS2, ABCC10 +1028 more	Copy number gain	See cases	GPathogenic
Select item 443496	GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)x3	RING1, RIOK1 +1028 more	Copy number gain	See cases	GPathogenic
Select item 442770	GRCh37/hg19 6p12.1(chr6:54730810-56217129)x1	BMP5, COL21A1 +4 more	Copy number loss	See cases	GLikely benign

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Items: 41